PubRank

K Devriendt

Author PubWeight™ 138.78‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports. J Med Genet 2006 3.70
2 Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant. J Med Genet 2008 3.35
3 GATA3 haplo-insufficiency causes human HDR syndrome. Nature 2000 2.73
4 Intelligence and psychosocial adjustment in velocardiofacial syndrome: a study of 37 children and adolescents with VCFS. J Med Genet 1997 2.20
5 The annual incidence of DiGeorge/velocardiofacial syndrome. J Med Genet 1998 2.16
6 Congenital hereditary lymphedema caused by a mutation that inactivates VEGFR3 tyrosine kinase. Am J Hum Genet 2000 1.86
7 Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlation. Hum Mol Genet 2001 1.84
8 Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III. Am J Hum Genet 2000 1.80
9 Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map. J Med Genet 2004 1.55
10 RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions. J Med Genet 2005 1.52
11 Chromosome 22q11 deletion syndrome: update and review of the clinical features, cognitive-behavioral spectrum, and psychiatric complications. Am J Med Genet 2000 1.49
12 Platelet characteristics in patients with X-linked macrothrombocytopenia because of a novel GATA1 mutation. Blood 2001 1.47
13 Hypoplastic claviculae in the Kabuki (Niikawa-Kuroki) syndrome. Genet Couns 1998 1.43
14 Intellectual abilities in a large sample of children with Velo-Cardio-Facial Syndrome: an update. J Intellect Disabil Res 2007 1.37
15 The behavioural phenotype in velo-cardio-facial syndrome (VCFS): from infancy to adolescence. Genet Couns 1999 1.36
16 Deletion of thyroid transcription factor-1 gene in an infant with neonatal thyroid dysfunction and respiratory failure. N Engl J Med 1998 1.35
17 Genotype-phenotype correlation in 21 patients with Wolf-Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH). J Med Genet 2007 1.32
18 A balanced translocation t(6;14)(q25.3;q13.2) leading to reciprocal fusion transcripts in a patient with intellectual disability and agenesis of corpus callosum. Cytogenet Genome Res 2010 1.31
19 Further delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical PAX2 mutations. Am J Hum Genet 1997 1.29
20 PA26 is a candidate gene for heterotaxia in humans: identification of a novel PA26-related gene family in human and mouse. Hum Genet 2003 1.23
21 Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene. Am J Med Genet A 2010 1.21
22 Isolated supravalvular aortic stenosis: functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decay. Hum Genet 2000 1.20
23 Neuropsychological, learning and psychosocial profile of primary school aged children with the velo-cardio-facial syndrome (22q11 deletion): evidence for a nonverbal learning disability? Child Neuropsychol 1999 1.20
24 Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families. Hum Mutat 2008 1.20
25 The neurobeachin gene is disrupted by a translocation in a patient with idiopathic autism. J Med Genet 2003 1.19
26 Primary, nonsyndromic vesicoureteric reflux and its nephropathy is genetically heterogeneous, with a locus on chromosome 1. Am J Hum Genet 2000 1.18
27 Deletion of NKX2.1 gene encoding thyroid transcription factor-1 in two siblings with hypothyroidism and respiratory failure. J Pediatr 2000 1.14
28 Rearrangement of the human CDC5L gene by a t(6;19)(p21;q13.1) in a patient with multicystic renal dysplasia. Genomics 1998 1.12
29 The prevalence of PAX2 mutations in patients with isolated colobomas or colobomas associated with urogenital anomalies. J Med Genet 1998 1.10
30 Renal and urological tract malformations caused by a 22q11 deletion. J Med Genet 1996 1.08
31 Identification of novel DKC1 mutations in patients with dyskeratosis congenita: implications for pathophysiology and diagnosis. Hum Genet 2001 1.08
32 Molecular analysis of SALL1 mutations in Townes-Brocks syndrome. Am J Hum Genet 1999 1.07
33 A novel MSX1 mutation in hypodontia. Am J Med Genet A 2004 1.04
34 Challenges of interpreting copy number variation in syndromic and non-syndromic congenital heart defects. Cytogenet Genome Res 2011 1.04
35 Regional localization of two genes for nonspecific X-linked mental retardation to Xp22.3-p22.2 (MRX49) and Xp11.3-p11.21 (MRX50). Am J Med Genet 1997 1.04
36 Variable phenotype in Greig cephalopolysyndactyly syndrome: clinical and radiological findings in 4 independent families and 3 sporadic cases with identified GLI3 mutations. Am J Med Genet A 2003 1.02
37 Neuropsychopathology in 7 Patients with the 22q13 Deletion Syndrome: Presence of Bipolar Disorder and Progressive Loss of Skills. Mol Syndromol 2012 1.02
38 Velocardiofacial syndrome patients with a heterozygous chromosome 22q11 deletion have giant platelets. Pediatr Res 1998 1.01
39 Psychotic disorders in Prader-Willi syndrome. Am J Med Genet A 2004 1.00
40 The incidence of a deletion in chromosome 22Q11 in sporadic and familial conotruncal heart disease. Eur J Pediatr 1996 1.00
41 Severe alport phenotype in a woman with two missense mutations in the same COL4A5 gene and preponderant inactivation of the X chromosome carrying the normal allele. J Clin Invest 1995 1.00
42 Transcription factor GATA3 and the human HDR syndrome. Cell Mol Life Sci 2001 1.00
43 The t(4;8) is mediated by homologous recombination between olfactory receptor gene clusters, but other 4p16 translocations occur at random. Genet Couns 2007 0.98
44 Haploinsufficiency of the HOXA gene cluster, in a patient with hand-foot-genital syndrome, velopharyngeal insufficiency, and persistent patent Ductus botalli. Am J Hum Genet 1999 0.97
45 Unusual molecular findings in autosomal recessive spinal muscular atrophy. J Med Genet 1996 0.96
46 Multiple lipomas linked to an RB1 gene mutation in a large pedigree with low penetrance retinoblastoma. Eur J Hum Genet 2001 0.95
47 IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign. Mol Syndromol 2010 0.95
48 Assessment of association between variants and haplotypes of the remaining TBX1 gene and manifestations of congenital heart defects in 22q11.2 deletion patients. J Med Genet 2004 0.94
49 Rapid prenatal diagnosis of trisomy 21 in 5049 consecutive uncultured amniotic fluid samples by fluorescence in situ hybridisation (FISH). Prenat Diagn 2002 0.93
50 Involvement of a palindromic chromosome 22-specific low-copy repeat in a constitutional t(X; 22)(q27;q11). Clin Genet 2002 0.93
51 A recognisable behavioural phenotype associated with terminal deletions of the short arm of chromosome 8. Am J Med Genet 1997 0.93
52 Chromosome 15 maternal uniparental disomy and psychosis in Prader-Willi syndrome. J Med Genet 2003 0.93
53 Partial DiGeorge syndrome in two patients with a 10p rearrangement. Clin Genet 1999 0.93
54 Autosomal dominant microcephaly--lymphoedema-chorioretinal dysplasia syndrome. Br J Ophthalmol 2001 0.93
55 Presenting symptoms and clinical features in 130 patients with the velo-cardio-facial syndrome. The Leuven experience. Genet Couns 1999 0.92
56 Molecular analysis of the isochromosome 12P in the Pallister-Killian syndrome. Construction of a mouse-human hybrid cell line containing an i(12p) as the sole human chromosome. Hum Genet 1989 0.92
57 Ring syndrome caused by ring chromosome 7 without loss of subtelomeric sequences. Clin Genet 2002 0.92
58 Low expression VEGF haplotype increases the risk for tetralogy of Fallot: a family based association study. J Med Genet 2005 0.92
59 Cohen syndrome: the clinical symptoms and stigmata at a young age. Clin Genet 1996 0.90
60 1.4 Mb candidate gene region for X linked dyskeratosis congenita defined by combined haplotype and X chromosome inactivation analysis. J Med Genet 1998 0.90
61 The phenotypic spectrum of the 10p deletion syndrome versus the classical DiGeorge syndrome. Genet Couns 1999 0.90
62 Melorheostosis in a family with autosomal dominant osteopoikilosis: report of a third family. Am J Med Genet A 2003 0.89
63 Microduplication 22q11.2: a description of the clinical, developmental and behavioral characteristics during childhood. Genet Couns 2012 0.89
64 Distal limb deficiencies, micrognathia syndrome, and syndromic forms of split hand foot malformation (SHFM) are caused by chromosome 10q genomic rearrangements. J Med Genet 2009 0.89
65 Children with a 22q11 deletion versus children with a speech-language impairment and learning disability: behavior during primary school age. Genet Couns 2001 0.88
66 Differences in Copy Number Variation between Discordant Monozygotic Twins as a Model for Exploring Chromosomal Mosaicism in Congenital Heart Defects. Mol Syndromol 2012 0.88
67 Mathematical disabilities in children with velo-cardio-facial syndrome. Neuropsychologia 2006 0.87
68 Molecular karyotyping of patients with MCA/MR: the blurred boundary between normal and pathogenic variation. Cytogenet Genome Res 2006 0.86
69 Identification of dosage-sensitive genes in fetuses referred with severe isolated congenital diaphragmatic hernia. Prenat Diagn 2013 0.86
70 Short Stature in KBG Syndrome: First Responses to Growth Hormone Treatment. Horm Res Paediatr 2015 0.86
71 Novel syndromic form of X-linked complicated spastic paraplegia. Am J Med Genet 2000 0.86
72 The communication of secondary variants: interviews with parents whose children have undergone array-CGH testing. Clin Genet 2014 0.85
73 Prenatal findings in a monozygotic twin pregnancy with Costello syndrome. Prenat Diagn 2002 0.85
74 Unilateral Peters' anomaly in a patient with DiGeorge syndrome. J Pediatr Ophthalmol Strabismus 2005 0.85
75 ARX mutation in a boy with transsphenoidal encephalocele and hypopituitarism. Clin Genet 2004 0.85
76 Genetic locus on chromosome 6p for multicystic renal dysplasia, pelvi-ureteral junction stenosis, and vesicoureteral reflux. Am J Med Genet 1995 0.85
77 Mathematical disabilities in young primary school children with velo-cardio-facial syndrome. Genet Couns 2006 0.84
78 X-linked severe mental retardation and a progressive neurological disorder in a Belgian family: clinical and genetic studies. Clin Genet 1997 0.84
79 The X-linked infantile spasms syndrome (MIM 308350) maps to Xp11.4-Xpter in two pedigrees. Ann Neurol 1997 0.84
80 Sporadic male patients with intellectual disability: contribution of X-chromosome copy number variants. Eur J Med Genet 2012 0.84
81 DISC1 duplication in two brothers with autism and mild mental retardation. Clin Genet 2009 0.84
82 Novel PORCN mutations in focal dermal hypoplasia. Clin Genet 2009 0.84
83 Occipital Horn syndrome in a 2-year-old boy. Clin Dysmorphol 1999 0.84
84 Cryptic translocation t(5;18) in familial mental retardation. Ann Genet 2001 0.84
85 Deletion 2q37.3 and autism: molecular cytogenetic mapping of the candidate region for autistic disorder. Genet Couns 2004 0.84
86 Unconventional intronic splice site mutation in SCN5A associates with cardiac sodium channelopathy. J Med Genet 2005 0.83
87 Structure, sequence, and chromosome 19 localization of human USF2 and its rearrangement in a patient with multicystic renal dysplasia. Genomics 1996 0.83
88 Scalp skin lesion in Turner syndrome: more than lymphoedema? Clin Dysmorphol 2005 0.82
89 Spectrum of temporal bone abnormalities in patients with Waardenburg syndrome and SOX10 mutations. AJNR Am J Neuroradiol 2012 0.82
90 PALML, a novel paralemmin-related gene mapping on human chromosome 1p21. Gene 2001 0.82
91 MURCS association with duplicated thumb. Clin Genet 2002 0.82
92 Molecular cytogenetic characterization of a constitutional complex intrachromosomal 4q rearrangement in a patient with multiple congenital anomalies. Cytogenet Genome Res 2006 0.82
93 Novel GJA1 mutations in patients with oculo-dento-digital dysplasia (ODDD). Eur J Med Genet 2005 0.82
94 Aarskog-Scott syndrome: first report of a duplication in the FGD1 gene. Clin Genet 2011 0.81
95 Aetiology of congenital hearing loss: a cohort review of 569 subjects. Int J Pediatr Otorhinolaryngol 2013 0.81
96 Investigating the etiology of multiple tooth agenesis in three sisters with severe oligodontia. Orthod Craniofac Res 2008 0.81
97 Prenatal diagnosis of partial trisomy 3p(3p23-->pter) and monosomy 7q(7q36-->qter) in a fetus with microcephaly alobar holoprosencephaly and cyclopia. Prenat Diagn 1999 0.81
98 Familial deletions of chromosome 22q11: the Leuven experience. Am J Med Genet 1998 0.81
99 Retrospective analysis of feeding and speech disorders in 50 patients with velo-cardio-facial syndrome. Genet Couns 1999 0.81
100 Structure of the human alpha-2 macroglobulin gene and its promotor. Biochem Biophys Res Commun 1992 0.81
101 Cognitive correlates of mathematical disabilities in children with velo-cardio-facial syndrome. Genet Couns 2008 0.81
102 Diaphragmatic hernia as the first echographic sign in Apert syndrome. Prenat Diagn 2000 0.80
103 The velo-cardio-facial syndrome: the otorhinolaryngeal manifestations and implications. Int J Pediatr Otorhinolaryngol 1998 0.80
104 Polyhydramnios and paroxysmal atrial tachycardia as first clinical signs in Costello syndrome. Genet Couns 1996 0.80
105 A novel NOG mutation Pro37Arg in a family with tarsal and carpal synostoses. Am J Med Genet A 2004 0.80
106 Dicentric chromosome 9 due to tandem duplication of the 9p11-q13 region: unusual chromosome 9 variant. Am J Med Genet 2000 0.80
107 Isolation of cosmids corresponding to the chromosome breakpoints of a de novo autosomal translocation, t(6;19)(p21;q13.1), in a patient with multicystic renal dysplasia. Cytogenet Cell Genet 1996 0.80
108 Prenatal diagnosis of inherited satellited non-acrocentric chromosomes. Prenat Diagn 2000 0.80
109 Parenting, family contexts, and personality characteristics in youngsters with VCFS. Genet Couns 2004 0.80
110 Down syndrome in a population of elderly mentally retarded patients: genetic-diagnostic survey and implications for medical care. Am J Med Genet 1999 0.79
111 The fetal respiratory system as target for antenatal therapy. Facts Views Vis Obgyn 2011 0.79
112 Two siblings with early onset fetal akinesia deformation sequence and hydranencephaly: further evidence for autosomal recessive inheritance of hydranencephaly, fowler type. Am J Med Genet 2002 0.79
113 Lumbosacral spina bifida and myeloschizis in a female foetus with de novo X/autosomal translocation (t(X;22)(q27;q121)) Genet Couns 1996 0.79
114 Interstitial telomeric sequences at the junction site of a jumping translocation. Hum Genet 1997 0.78
115 Second trimester miscarriage of a male fetus with incontinentia pigmenti. Am J Med Genet 1998 0.78
116 Pregnancy outcome and long term prognosis in 868 children born after second trimester amniocentesis for maternal serum positive triple test screening and normal prenatal karyotype. J Med Genet 2001 0.78
117 A genetic polymorphism in a functional domain of human pregnancy zone protein: the bait region. Genomic structure of the bait domains of human pregnancy zone protein and alpha 2 macroglobulin. FEBS Lett 1990 0.78
118 Holoprosencephaly in deletions of proximal chromosome 14q. J Med Genet 1998 0.78
119 Wolf-Hirschhorn syndrome with cryptic 4p16.3 deletion and balanced/unbalanced mosaicism in the mother. Ann Genet 1998 0.78
120 Human homologues of Osr1 and Osr2 are not involved in a syndrome with distal limb deficiencies, oral abnormalities, and renal defects. Am J Med Genet 2002 0.78
121 Mapping of 5q35 chromosomal rearrangements within a genomically unstable region. J Med Genet 2008 0.78
122 Loss of the Y-chromosome in a malignant Sertoli tumor. Cancer Genet Cytogenet 1993 0.78
123 Xp22.3; Yq11.2 chromosome translocation and its clinical manifestations. Ann Genet 2001 0.77
124 [Sleep disturbances in Smith-Magenis syndrome: treatment with melatonin and beta-adrenergic antagonists]. Tijdschr Psychiatr 2010 0.77
125 Familial spastic paraplegia and maculopathy with juxtafoveolar retinal telangiectasis and subretinal neovascularization. Retina 2000 0.77
126 Bilateral tibial agenesis with ectrodactyly (OMIM 119100): further evidence for autosomal recessive inheritance. Am J Med Genet 2001 0.77
127 Hydrocephalus with features of VATER. Genet Couns 1995 0.77
128 Regional localization of a gene for nonspecific XLMR to Xp11.3-p11. 23 (MRX51) and tentative localization of an MRX gene to Xq23-q26.1. Am J Med Genet 1999 0.77
129 Mild dysmorphic signs in two male sibs with partial trisomy 2q32.1-->q35 due to maternal ins(14;2) translocation. Clin Dysmorphol 1999 0.76
130 Wiedemann-Beckwith syndrome and chromosomal duplication 4q/deficiency 18p. Genet Couns 1993 0.76
131 Unusual de novo t(13;15)(q12.1;p13) translocation leading to complex mosaicism including jumping translocation. Ann Genet 1998 0.76
132 The macrocephaly-cutis marmorata telangiectatica congenita syndrome. Long-term follow-up data in 4 children and adolescents. Genet Couns 1998 0.76
133 Clinical features in 130 patients with the velo-cardio-facial syndrome. The Leuven experience. Acta Otorhinolaryngol Belg 2001 0.76
134 Aneurysm of the ductus arteriosus in a neonate with 13q-deletion. Am J Perinatol 2001 0.76
135 Velo-cardio-facial syndrome: guidelines for diagnosis, treatment and follow-up of ent manifestations. Acta Otorhinolaryngol Belg 2003 0.76
136 Recurrent involvement of chromosomal region 6q21 in heterotaxy. Am J Med Genet 2001 0.75
137 FOXD1 Duplication Causes Branchial Defects and Interacts with the TFAP2A Gene Implicated in the Branchio-Oculo-Facial Syndrome in Causing Eye Effects in Zebrafish. Mol Syndromol 2011 0.75
138 Heterogeneity in omphalocoele with absent radial ray complex. Am J Med Genet 1999 0.75
139 Velo-facio-skeletal syndrome versus Aarskog syndrome. Am J Med Genet 1996 0.75
140 Polysyndactyly and trigonocephaly with partial agenesis of corpus callosum: an example of the variable clinical spectrum of the Acrocallosal syndrome? Clin Dysmorphol 1997 0.75
141 Two adult females with a distinct familial mental retardation syndrome: non-progressive neurological symptoms with ataxia and hypotonia, similar facial appearance, hypergonadotrophic hypogonadism, and retinal dystrophy. J Med Genet 1998 0.75
142 The Haspeslagh syndrome (MIM 177980) is caused by an unbalanced reciprocal 6q/9p translocation. Clin Genet 2000 0.75
143 Severe mental retardation-distal arthrogryposis in the upper limbs and complex chromosomal rearrangements resulting from a 10q25-->qter deletion. Clin Genet 1998 0.75
144 Precocious puberty in Klinefelter syndrome: non-specific result of neurological deficit? Am J Med Genet 1997 0.75
145 Genetics in ophthalmology. Bull Soc Belge Ophtalmol 1998 0.75
146 Further evidence for germinal mosaicism in cleft hand/cleft foot syndrome. Two affected halfsisters and normal father. Genet Couns 2001 0.75
147 Skin pigmentation anomalies in ring chromosome 13. Genet Couns 1998 0.75
148 Localization by FISH of centric fission breakpoints in a de novo trisomy 9p patient with i(9p) and t(9q;11p). Genet Couns 1998 0.75
149 On the nosology of van der Woude syndrome and popliteal pterygium syndrome: implications for genetic counseling. Genet Couns 2000 0.75
150 Large congenital follicular ovarian cyst in a girl with Kabuki syndrome. Am J Med Genet 1996 0.75
151 MCA syndrome with renal-hepatic-pancreatic dysplasia, posterior fossa cyst, symmetrical limb deficiencies, cleft palate, cardiac and Müllerian duct anomalies. Am J Med Genet 2002 0.75
152 Review: Facial endophenotypes in non-syndromic orofacial clefting. B-ENT 2015 0.75
153 Zygodactyly as the most striking physical anomaly in an adult male patient with pure partial trisomy 1q. Ann Genet 1998 0.75
154 Follow-up of an adult with Keutel syndrome. Am J Med Genet 1999 0.75
155 Terminal deletion of chromosome 10q26: delineation of two clinical phenotypes. Genet Couns 1998 0.75
156 Neuroblastoma in a mother and congenital central hypoventilation in her daughter: variable expression of the same genetic disorder? Am J Med Genet 2000 0.75
157 Prenatal diagnosis of schizencephaly after inhalation of organic solvents. Ultrasound Obstet Gynecol 2007 0.75
158 Heterochromia of the irides and a motility disorder of the oesophagus: a coincidence or a defect during embryogenesis? Bull Soc Belge Ophtalmol 2003 0.75
159 The prenatal diagnosis of spinal muscular atrophy. Prenat Diagn 1998 0.75
160 Unilateral giant cell lesion of the jaw in Noonan syndrome. JBR-BTR 2014 0.75
161 Chromosome mapping using polymerase chain reaction on somatic cell hybrids. Cancer Genet Cytogenet 1990 0.75
162 Macrocephaly, hypospadias grade III-IV, and fragile X-like behavior in identical twins without involvement of the FMR-1 gene. Genet Couns 1996 0.75
163 Partial monosomy 11q and trisomy 12q: variable expression in two siblings. Genet Couns 2003 0.75
164 A 3p deletion syndrome in a child with both del(3)(p25-->pter) and dup(17)(q23-->qter). Ann Genet 1999 0.75
165 Unilateral limb reduction defect and lumbar appendage: disorganisation-like syndrome? Genet Couns 2004 0.75
166 Distinct familial syndrome of severe to profound mental retardation, spastic paraplegia with contrasting axial hypotonia, short stature and distinct craniofacial appearance with nasal hypoplasia. Genet Couns 1998 0.75
167 Right aortic arch with vascular ring in one monozygotic twin. J Thorac Cardiovasc Surg 2005 0.75
168 Personality profiles of youngsters with velo-cardio-facial syndrome. Genet Couns 2002 0.75
169 Resolution of non-immune hydrops in Noonan syndrome with favorable outcome. Am J Med Genet 2002 0.75
170 The Kabuki make-up (Niikawa-Kuroki) syndrome and isolated transient hyperphosphatasemia. Clin Genet 1994 0.75
171 Mesomelic form of chondrodysplasia and congenital glaucoma associated with de novo translocation (13;18)(q14;q23). Genet Couns 2004 0.75
172 Semilobar holoprosencephaly in a 46,XY female fetus. Prenat Diagn 2001 0.75
173 Autosomal dominant isolated velopharyngeal insufficiency. Clin Genet 2002 0.75
174 Lobar holoprosencephaly in 18pter deletion resulting from the karyotype 45,X,-18,der(8;18)t(8; 18)(pter;p11.21). Genet Couns 2008 0.75
175 The acrofacial dysostoses--a wide spectrum of overlapping phenotypes. Genet Couns 2005 0.75
176 Pericentric inversion with partial 7(q35-->qter) duplication and 7pter deletion: diagnosis by cytogenetic and fish analysis in a 29-year-old male patient. Genet Couns 2002 0.75
177 Pre-academic and early academic achievement in children with velocardiofacial syndrome (del22q11.2) of borderline or normal intelligence. Genet Couns 2003 0.75
178 A case of left isomerism with early fetal decompensation. Ultrasound Obstet Gynecol 2007 0.75
179 Unilateral symbrachydactyly of the foot. Genet Couns 2006 0.75