Published in Lancet on February 27, 1999
Unexpected Inheritance of a Balanced Homologous translocation t(22q;22q) from father to a phenotypically normal daughter. Indian J Hum Genet (2014) 0.75
Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome. Nat Genet (2000) 2.03
A case associated with Walker Warburg syndrome phenotype and homozygous pericentric inversion 9: coincidental finding or aetiological factor? Acta Paediatr (1999) 1.42
Dermatoglyphic findings in Laurence-Moon-Biedl syndrome. Lancet (1973) 1.38
Duplication-deficiency product of a pericentric inversion in man: a cause of D 1 trisomy syndrome. J Pediatr (1973) 1.20
Homozygous and compound heterozygous mutations at the Werner syndrome locus. Hum Mol Genet (1996) 1.19
Prenatal diagnosis of diastematomyelia in a 15-week-old fetus. Fetal Diagn Ther (2005) 1.12
A new syndrome with prenatally diagnosed thoracoschisis, hiatal hernia and extremities' agenesis: case report. Genet Couns (2006) 1.02
FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy. Eur J Hum Genet (2000) 1.00
Follow-up of atypia and follicular lesions of undetermined significance in thyroid fine needle aspiration cytology. Cytopathology (2012) 1.00
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
Dermatological manifestations of 71 Down syndrome children admitted to a clinical genetics unit. Clin Genet (1996) 0.96
31 cases with oculoauriculovertebral dysplasia (Goldenhar syndrome): clinical, neuroradiologic, audiologic and cytogenetic findings. Genet Couns (2007) 0.95
Thoracoschisis associated with diaphragmatic hernia in a 31-week-old stillbirth. Turk J Pediatr (2001) 0.94
True hermaphroditism: clinical features, genetic variants and gonadal histology. J Pediatr Endocrinol Metab (2001) 0.93
Cervico-ocula-acusticus syndrome of Wildervanck. Case report. Turk J Pediatr (1973) 0.92
Hereditary gingival fibromatosis and sensorineural hearing loss in a 42-year-old man with Jones syndrome. Genet Couns (2004) 0.87
Letter: Birth defects and oral contraceptives. Lancet (1973) 0.86
An atypical form of dyskeratosis congenita with renal agenesis and no mutation in DKC1, TERC and TERT genes. J Eur Acad Dermatol Venereol (2009) 0.85
Germ cell tumours in a brother and sister. Acta Paediatr (1997) 0.84
Can cytomegalovirus cause brachydactyly? A case report and review of the literature. Clin Genet (1993) 0.83
A male case with double aneuploidy (48,XXY,+21). Genet Couns (2008) 0.82
An unusual chromosomal aberration in a case of Chediak-Higashi syndrome. J Med Genet (1970) 0.80
Type 1 sirenomelia in one of male twins, with imperforate anus in the other male twin. Clin Dysmorphol (2000) 0.80
Triphalangeal thumb in a case of VACTERL-hydrocephalus association. Genet Couns (2003) 0.80
Corneal opacity, microphthalmia, mental retardation, microcephaly and generalized muscular spasticity associated with hyperglycinemia. Clin Genet (1974) 0.80
Fetal hemoglobin in various forms of childhood leukemia. Relation to relapse and remission. Clin Pediatr (Phila) (1970) 0.80
Sirenomelia in an infant of a diabetic mother. A case report. Turk J Pediatr (1996) 0.79
Two brothers with hypospadias, hypertelorism, upper lid coloboma and mixed type hearing loss: a new syndrome. Clin Genet (1998) 0.79
45,XO Turner's syndrome, Wilm's tumor and imprforate anus. Humangenetik (1971) 0.79
Robinow syndrome, vaginal atresia, hematocolpos, and extra middle finger. Am J Med Genet (1998) 0.79
Selective cerebral perfusion with aortic cannulation and short-term hypothermic circulatory arrest in aortic arch reconstruction. Perfusion (2013) 0.78
Familial intestinal polyatresia syndrome. Clin Genet (1995) 0.78
Familial microtia with meatal atresia in father and son. Turk J Pediatr (1974) 0.78
Hürthle cell presence alters the distribution and outcome of categories in the Bethesda system for reporting thyroid cytopathology. Cytopathology (2013) 0.78
Imperforate anus (polydactyly) vertebral anomalies syndrome: a hereditary trait? J Pediatr (1971) 0.77
Middle and inner ear anomalies in a patient with CHARGE association. Genet Couns (2003) 0.77
Cri-du-chat syndrome associated with arachnoid cyst causing triventricular hydrocephalus. Clin Dysmorphol (2001) 0.77
13-15 (D1) trisomy syndrome. (With special emphasis on pathological findings). Turk J Pediatr (1971) 0.77
Unusual calcium deposition in cartilage associated with short stature and peculiar facial features: a case report. Pediatr Radiol (1973) 0.76
Bannayan-riley-ruvalcaba syndrome from the point of view of the pediatric surgeon. Eur J Pediatr Surg (2006) 0.76
Impaired glucose tolerance in pulmonary tuberculosis. Eur J Respir Dis (1987) 0.76
A Turkish family with Ellis-van Creveld syndrome in six siblings; linkage analysis on 4p16 region (D4S3360-D4S2366). Genet Couns (2008) 0.75
Diploid-triploid and tetraploid mosaicism in a child with cryptogenic cirrhosis and membranous glomerulonephritis: a causal relationship or coincidental association? Turk J Pediatr (1998) 0.75
Co-occurrence of familial Mediterranean fever (FMF) heterozygote mutation and nail-patella syndrome (NPS) in 3 members of a family with LMX1B mutation analysis. Genet Couns (2007) 0.75
Does circumcision increase neonatal jaundice? Acta Paediatr (2008) 0.75
[Klippel-trenaunay-weber syndrome with giant cysts in the lung (author's transl)]. Prax Pneumol (1976) 0.75
An artificial intelligent diagnostic system with neural networks to determine genetical disorders and fetal health by using maternal serum markers. Eur J Obstet Gynecol Reprod Biol (1995) 0.75
Potter's syndrome: bilateral renal agenesis (a report of two cases emphasizing associated malformations). Turk J Pediatr (1984) 0.75
Down syndrome associated with systemic lupus erythematosus: a mere coincidence or a significant association? Clin Genet (1994) 0.75
An unusual fetus with complete absence of thoracic, lumbar and sacral vertebrae, bilateral renal agenesis, VSD, meningomyelocele, imperforate anus, and teratoma. Clin Dysmorphol (2001) 0.75
Intussusception due to inflammatory fibroid polyp of the ileum. A report of two cases from Turkiye. Hiroshima J Med Sci (1995) 0.75
A Turkish family with Greig cephalopolysyndactyly syndrome. Turk J Pediatr (2000) 0.75
Cornelia de Lange syndrome. Turk J Pediatr (1969) 0.75
Lethal chondrodysplasia punctata in two siblings. Turk J Pediatr (1988) 0.75
Hallermann-Streiff syndrome. (Dyscephalia mandibulo-oculo-facialis). Turk J Pediatr (1971) 0.75
[Acute glomerulonephritis in a pediatric unit]. Turk Hemsire Derg (1983) 0.75
Human fascioliasis. Gall bladder invasion by flukes in a five-year-old boy. Clin Pediatr (Phila) (1975) 0.75
Infantile thoracic dystrophy. Turk J Pediatr (1969) 0.75
Laurence-Moon-Biedl syndrome in presumably identical twins. Humangenetik (1971) 0.75
Cri-Du-Chat [5p-syndrome]: (report of two cases). Turk J Pediatr (1978) 0.75
A case with some clinical findings overlapping to Rubinstein-Taybi, Rubinstein-Taybi-like syndrome or multiple pterygium syndrome: coincidental findings or a new entity? Turk J Pediatr (2001) 0.75
A large inguinal hernia with undescended testes and micropenis in Robinow syndrome. Clin Dysmorphol (1996) 0.75
Megalocornea-mental retardation (MMR or Neuhauser) syndrome: another case associated with cerebral cortical atrophy and Bifid uvula. Genet Couns (2004) 0.75
Aase-Smith syndrome: report of a new case with unusual features. Turk J Pediatr (1994) 0.75
Leukemias associated with neurofibromatosis in children. Turk J Pediatr (1989) 0.75
A female patient with frontonasal dysplasia sequence and frontonasal encephalocele. Ann Plast Surg (1999) 0.75
Incidence of congenital malformations in a sample of the Turkish population. Hum Hered (1973) 0.75
Two male patients with nevoid basal cell carcinoma syndrome from Turkey. Turk J Pediatr (2001) 0.75
An eleven-year-old female Turkish patient with progressive pseudorheumatoid dysplasia mimicking juvenile idiopathic arthritis. Clin Exp Rheumatol (2002) 0.75
Sister chromatid exchange rate from pleural fluid cells in patients with malignant mesothelioma. Mutat Res (2000) 0.75
Three cases of oblique facial cleft: etiology, tomographic evaluation and reconstruction. Clin Dysmorphol (1992) 0.75
A new syndrome of dysmorphogenesis: imperforate-anus associated with poly-oligodactyly and skeletal (mainly vertebral) anomalies. Acta Paediatr Scand (1971) 0.75
Bronchiectasis due to ciliary aplasia in Turner's syndrome. Turk J Pediatr (2000) 0.75
Wilm's tumor and congenital malformations. Turk J Pediatr (1969) 0.75
Classical phenylketonuria associated with Goldenhar's syndrome. A case report. Turk J Pediatr (1994) 0.75
Absence of a hand (acheiria) in a child whose father was treated with cyclophosphamide for Behçet's disease. Turk J Pediatr (1984) 0.75
Lethal hydrops fetalis due to congenital dyserythropoietic anemia in a newborn: association of a new skeletal abnormality. Pediatr Hematol Oncol (2001) 0.75
Gated myocardial perfusion scintigraphy in children with sickle cell anemia: correlation with echocardiography. Rev Esp Med Nucl (2011) 0.75
Temporary dysplastic hematological features due to iron deficiency in a case of Poland syndrome. Pediatr Hematol Oncol (2004) 0.75
A case of omphalocele with absence of the thumb and syndactily. Turk J Pediatr (1974) 0.75
Autosomal dominant aplasia cutis in three generations and one case with preaxial polydactyly in the last generation. Genet Couns (2011) 0.75
Werner's syndrome. Turk J Pediatr (1971) 0.75
A whistling face syndrome case with bilateral skin dimples. Genet Couns (2005) 0.75
Humeroradial synostosis. A case report. Humangenetik (1973) 0.75
Popliteal pterygium associated with neonatal Marfan syndrome: case report. Clin Dysmorphol (2001) 0.75
Holt-Oram syndrome (analysis of six cases). Turk J Pediatr (1981) 0.75
Short-rib-polydactyly syndrome (Saldino-Noonan type). Turk J Pediatr (1983) 0.75
A case of SC-phocomelia syndrome with nonrandom centromere separation. Prog Clin Biol Res (1982) 0.75
Case report. The cat-eye syndrome with unusual skeletal malformations. Acta Paediatr Scand (1974) 0.75
Two complementary recombinant chromosomes 5 in a healthy woman. Cytogenet Genome Res (2006) 0.75