Published in Cleve Clin Q on January 01, 1984
Maternal serum free beta hCG screening: results of studies including 480 cases of Down syndrome. Prenat Diagn (1994) 2.17
Congenital aplasia of the thymus gland (DiGeorge's syndrome). N Engl J Med (1968) 1.49
Gonadal dysgenesis in a patient with an X;3 translocation: case report and review. J Med Genet (1980) 1.40
Dermatoglyphic findings in Laurence-Moon-Biedl syndrome. Lancet (1973) 1.38
Chronic neutropenia and abnormal cellular immunity in cartilage-hair hypoplasia. N Engl J Med (1970) 1.27
Spondylocostal dysplasia and neural tube defects. J Med Genet (1991) 1.26
Duplication-deficiency product of a pericentric inversion in man: a cause of D 1 trisomy syndrome. J Pediatr (1973) 1.20
Contribution of fetal/maternal incompatibility to aetiology of pre-eclamptic toxaemia. Lancet (1971) 1.16
Agenesis of the lung associated with a chromosome abnormality (46,XX,2p+). J Med Genet (1980) 1.09
Polydactyly with triphalangeal thumbs, brachydactyly, camptodactyly, congenital dislocation of the patellas, short stature and borderline intelligence. Birth Defects Orig Artic Ser (1976) 1.09
Hereditary defect of the sacrum. Humangenetik (1975) 1.07
Microcephaly, short stature, and developmental delay associated with a chemotactic defect and transient hypogammaglobulinaemia in two brothers. J Med Genet (1986) 1.07
Pattern profile analysis of the hand in trichlorhinophalangeal syndrome. Pediatrics (1977) 1.04
Aspects of pre-eclamptic toxaemia of pregnancy, consanguinity, twinning in Ankara. J Med Genet (1976) 1.03
Association of birth defects and immunodeficiency. J Pediatr (1979) 1.01
A homozygote for pericentric inversion of chromosome 4. J Med Genet (1982) 0.99
Geophagia associated with iron-deficiency anemia, hepatosplenomegaly, hypogonadism and dwarfism. A syndrome probably associated with zinc deficiency. Clin Pediatr (Phila) (1969) 0.98
Community genetics. I. J Okla State Med Assoc (1975) 0.98
The oculocerebrocutaneous (Delleman) syndrome. J Med Genet (1988) 0.94
A new polydactyly/imperforate-anus/vertebral-anomalies syndrome? Lancet (1968) 0.94
Familial translocation (3p 15p) with partial trisomy for the upper arm of chromosome 3 in two sibs. J Pediatr (1976) 0.94
Immunodeficiency in children with severe craniofacial anomalies. South Med J (1982) 0.92
Cervico-ocula-acusticus syndrome of Wildervanck. Case report. Turk J Pediatr (1973) 0.92
Fragile X-linked mental retardation. A survey of 65 patients with mental retardation of unknown origin. Am J Dis Child (1982) 0.91
Mental retardation with blepharophimosis. J Med Genet (1987) 0.90
Phototherapy in nonobstructive, nonhemolytic jaundice. Pediatrics (1973) 0.88
Robinow syndrome: with special emphasis on dermatoglyphics and hand malformations (split hand). Clin Dysmorphol (1993) 0.87
Letter: Birth defects and oral contraceptives. Lancet (1973) 0.86
Partial deletion 21: case report with biochemical studies and review. J Med Genet (1987) 0.85
Novel mutation in the FGFR2 gene at the same codon as the Crouzon syndrome mutations in a severe Pfeiffer syndrome type 2 case. Am J Med Genet (1998) 0.84
3C syndrome: another case. Clin Genet (1989) 0.84
An infant with ring 17 chromosome and unusual dermatoglyphs: a new syndrome? J Med Genet (1981) 0.84
Additional evidence for a deleted gene for serum alpha-1-antitrypsin. N Engl J Med (1973) 0.84
Cytogenetic findings in acute monocytic leukemia in a renal allograft recipient. Cancer Genet Cytogenet (1986) 0.83
Nitroblue tetrazolium test in children with malnutrition. J Pediatr (1972) 0.83
Usefulness of pulse-wave Doppler tissue sampling and dobutamine stress echocardiography for identification of false positive inferior wall defects in SPECT. Jpn Heart J (2000) 0.83
Familial deletion of chromosome 18 (p11.2). Ann Genet (1996) 0.83
Familial trigonocephaly associated with short stature and developmental delay. Am J Dis Child (1981) 0.82
Detection of a familial cryptic translocation by fluorescent in situ hybridisation. J Med Genet (1996) 0.82
Sensorineural hearing loss and enamel hypoplasia with subtle nail findings: another family with Heimler's syndrome. Clin Dysmorphol (2003) 0.82
Coffin-Siris syndrome. Am J Dis Child (1978) 0.81
Chromosome aberration in ectopia cordis (46,XX,17q+) Am Heart J (1978) 0.81
Cerebro-oculo-nasal syndrome: another case and review of the literature. Clin Dysmorphol (1998) 0.81
Goodpasture's syndrome (pulmonary hemosiderosis with nephritis). Clin Pediatr (Phila) (1976) 0.81
Immunological studies in ataxia-telangiectasia. Clin Genet (1974) 0.80
An unusual chromosomal aberration in a case of Chediak-Higashi syndrome. J Med Genet (1970) 0.80
Thymic dysplasia associated with dyschondroplasia in an infant. Am J Dis Child (1972) 0.80
Corneal opacity, microphthalmia, mental retardation, microcephaly and generalized muscular spasticity associated with hyperglycinemia. Clin Genet (1974) 0.80
Trisomy-8 syndrome. Humangenetik (1974) 0.80
Ankylosis, facial anomalies, and pulmonary hypoplasia syndrome. Am J Dis Child (1979) 0.79
Induction of AGAMOUS gene expression plays a key role in ripening of tomato sepals in vitro. Plant Mol Biol (1998) 0.79
Partial trisomy 13q identified by sequential fluorescence in situ hybridization. Am J Med Genet (1995) 0.79
45,XO Turner's syndrome, Wilm's tumor and imprforate anus. Humangenetik (1971) 0.79
Hereditary congenital coxa vara with dominant inheritance? Humangenetik (1971) 0.78
The Gordon syndrome. J Med Genet (1980) 0.78
Intestinal mucosa in children with geophagia and iron-deficiency anaemia. Scand J Haematol (1970) 0.78
Turner's and Stein-Leventhal's syndrome in two sisters. Turk J Pediatr (1971) 0.78
Prenatal studies in a family with transcobalamin II deficiency. Am J Hum Genet (1987) 0.77
Imperforate anus (polydactyly) vertebral anomalies syndrome: a hereditary trait? J Pediatr (1971) 0.77
A case of lymphosarcoma, resembling Burkitt's tumor, in a Turkish child. Int J Cancer (1967) 0.77
Trial of a new pain assessment tool in patients with low education: the full cup test. Int J Clin Pract (2007) 0.77
13-15 (D1) trisomy syndrome. (With special emphasis on pathological findings). Turk J Pediatr (1971) 0.77
The radial dysplasia/imperforate anus/vertebral anomalies syndrome (the VATER association): Developmental aspects and eye findings. Acta Paediatr Scand (1977) 0.77
The response of the myocardial metabolism to atrial pacing in patients with coronary slow flow. Int J Cardiol (2001) 0.77
Unusual calcium deposition in cartilage associated with short stature and peculiar facial features: a case report. Pediatr Radiol (1973) 0.76
Steroid treatment of soft-tissue tumors in Bannayan syndrome. Plast Reconstr Surg (1988) 0.76
Giemsa banding patterns of 13/14, 21/21 translocations, Philadelphia chromosome and trisomy 18. Turk J Pediatr (1972) 0.76
CD1+ cells in mothers of stillborn infants with neural tube defects. Am J Med Genet (1995) 0.75
Letter: Misuse of acronyms and the VATER association. J Pediatr (1975) 0.75
Pulmonary agenesis: importance of detailed cytogenetic studies. Am J Med Genet (1998) 0.75
The heritability of liability to congenital dislocation of the hip. Turk J Pediatr (1972) 0.75
'Novel' immunodeficiency syndrome may be a previously described entity. Clin Genet (2000) 0.75
The incidence of PTC taste sensitivity in the population of Ankara. Turk J Pediatr (1966) 0.75
Types of erythrocytic glucose-6-phosphate dehydrogenase in normal and in deficient Turkish subjects. Turk J Pediatr (1967) 0.75
Sea-blue histiocytes in mycosis fungoides. Arch Dermatol (1975) 0.75
"Cat eye" syndrome with normal chromosomes. Lancet (1970) 0.75
Cornelia de Lange syndrome. Turk J Pediatr (1969) 0.75
Jejunal mucosa in infantile malnutrition. Acta Paediatr Scand (1970) 0.75
Larsen's syndrome. Turk J Pediatr (1972) 0.75
The incidence of twin births in Turkey. Turk J Pediatr (1967) 0.75
Human genetics, and the teaching of medicine. Turk J Pediatr (1965) 0.75
Hallermann-Streiff syndrome. (Dyscephalia mandibulo-oculo-facialis). Turk J Pediatr (1971) 0.75
Hepatitis-associated antigen and Burkitt's lymphoma. Lancet (1973) 0.75
Letter: No cell-mediated autohypersensitivity in psoriasis. Arch Dermatol (1975) 0.75
Oculodentodigital dysplasia syndrome. Acta Paediatr Scand (1971) 0.75
Infantile thoracic dystrophy. Turk J Pediatr (1969) 0.75
The heritability of liability to Talipes equinovàrus and genetic counseling. Turk J Pediatr (1972) 0.75
Laurence-Moon-Biedl syndrome in presumably identical twins. Humangenetik (1971) 0.75
Giemsa banding in the D 1 trisomy syndrome. Humangenetik (1972) 0.75
Australia antigen in Turkey. Lancet (1971) 0.75
Red cell metabolism and neonatal jaundice. Turk J Pediatr (1967) 0.75
Granuloma annulare and vitamin D resistant rickets. Cleve Clin Q (1974) 0.75
Dermatoglyphics in trisomy 8. Lancet (1972) 0.75
Three siblings with atypical mucopolysaccharidosis. Acta Paediatr Scand (1973) 0.75
A new syndrome of dysmorphogenesis: imperforate-anus associated with poly-oligodactyly and skeletal (mainly vertebral) anomalies. Acta Paediatr Scand (1971) 0.75
Wilm's tumor and congenital malformations. Turk J Pediatr (1969) 0.75
Werner's syndrome. Turk J Pediatr (1971) 0.75
Cryoglobulinemia in thalassemia major: a preliminary report. Turk J Pediatr (1972) 0.75
Renal amyloidosis and Hodgkin's disease in a child. Am J Dis Child (1968) 0.75
Down's syndrome. Turk J Pediatr (1968) 0.75