Spondylometaphyseal dysplasia-Sedaghatian typeELCIOGLU, N; HALL, C. M.American journal of medical genetics. 1998, Vol 76, Num 5, pp 410-414, issn 0148-7299Article

A lethal skeletal dysplasia with features of chondrodysplasia punctata and osteogenesis imperfecta : an example of Astley-Kendall dysplasia. Further delineation of a rare genetic disorderELCIOGLU, N; HALL, C. M.Journal of medical genetics. 1998, Vol 35, Num 6, pp 505-507, issn 0022-2593Article

Maternal systemic lupus erythematosus and chrondrodysplasia punctata in two sibs : phenocopy or coincidence?ELCIOGLU, N; HALL, C. M.Journal of medical genetics. 1998, Vol 35, Num 8, pp 690-694, issn 0022-2593Article

Temporal aspects in craniometaphyseal dysplasia : Autosomal recessive typeELCIOGLU, N; HALL, C. M.American journal of medical genetics. 1998, Vol 76, Num 3, pp 245-251, issn 0148-7299Article

The frequency of genetic eye diseases in a genetic counseling centerELCIOGLU, N; ELCIOGLU, M; FUHRMANN, W et al.Genetic counseling. 1995, Vol 6, Num 4, pp 329-342, issn 1015-8146Conference Paper

Dysosteosclerosis: A report of three new cases and evolution of the radiological findingsELCIOGLU, N. H; VELLODI, A; HALL, C. M et al.Journal of medical genetics. 2002, Vol 39, Num 8, pp 603-607, issn 0022-2593Article

Dermatoglyphics in patients with Cenani-Lenz type syndactyly : Studies in a new caseELCIOGLU, N; ATASU, M; CENANI, A et al.American journal of medical genetics. 1997, Vol 70, Num 4, pp 341-345, issn 0148-7299Article

Partial trisomy of 15q due to inserted inverted duplicationELCIOGLU, N; FEAR, C; BERRY, A. C et al.Clinical genetics. 1997, Vol 52, Num 6, pp 442-445, issn 0009-9163Article

Monozygotic twins discordant for the Oculo-Oto-Radial syndrome (IVIC syndrome)ELCIOGLU, N; BERRY, A. C.Genetic counseling. 1997, Vol 8, Num 3, pp 201-206, issn 1015-8146Conference Paper

Novel truncating and missense mutations of the KCC3 gene Associated with andermann syndromeUYANIK, G; ELCIOGLU, N; BOGDAHN, U et al.Neurology. 2006, Vol 66, Num 7, pp 1044-1048, issn 0028-3878, 5 p.Article

Mutations and polymorphisms in N-acetylgalactosamine-6-sulfate sulfatase gene in Turkish Morquio A patientsKHEDHIRI, S; CHKIOUA, L; ELCIOGLU, N et al.Pathologie et biologie. 2014, Vol 62, Num 1, pp 38-40, issn 0369-8114, 3 p.Article

A distinct form of spondyloepimetaphyseal dysplasia with multiple dislocationsHALL, C. M; ELCIOGLU, N. H; SHAW, D. G et al.Journal of medical genetics. 1998, Vol 35, Num 7, pp 566-572, issn 0022-2593Article

FISH analysis in patients with clinical diagnosis of Williams syndromeELCIOGLU, N; MACKIE-OGILVIE, C; DAKER, M et al.Acta paediatrica (Oslo). 1998, Vol 87, Num 1, pp 48-53, issn 0803-5253Conference Paper

Tuberous sclerosis : Clinical evaluation in a family and implications for genetic counselingELCIOGLU, N; KARATEKIN, G; ELCIOGLU, M et al.Genetic counseling. 1998, Vol 9, Num 2, pp 131-138, issn 1015-8146Conference Paper

New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population surveyBEALES, P. L; ELCIOGLU, N; WOOLF, A. S et al.Journal of medical genetics. 1999, Vol 36, Num 6, pp 437-446, issn 0022-2593Article

Persistent Müllerian duct syndrome: A case reportERK, A; ÖZEREN, S; ÖZBAY, O et al.Journal of reproductive medicine. 1999, Vol 44, Num 2, pp 135-138, issn 0024-7758Article

Jeune's asphyxiating thoracic dystrophy of the newbornSARIMURAT, N; ELCIOGLU, N; TEKANT, G. T et al.European journal of pediatric surgery. 1998, Vol 8, Num 2, pp 100-101, issn 0939-7248Article

Short rib-polydactyly syndrome in twins : Beemer-Langer type with polydactylyELCIOGLU, N; KARATEKIN, G; SEZGIN, B et al.Clinical genetics. 1996, Vol 50, Num 3, pp 159-163, issn 0009-9163Article

Peroxisomal disorders : Clinical and biochemical studies in 15 children and prenatal diagnosis in 7 familiesSTEINBERG, S. J; ELCIOGLU, N; SLADE, C. M et al.American journal of medical genetics. 1999, Vol 85, Num 5, pp 502-510, issn 0148-7299Article

Die Nierenfunktionsstörungen asphyktischer Neugeborener = Renal function disorders in newborns with perinatal asphyxiaELCIOGLU, N; SIRIN, A; CAN, G et al.Geburtshilfe und Frauenheilkunde. 1995, Vol 55, Num 3, pp 160-163, issn 0016-5751Article

An epidemiological approach to acute renal failure in childrenGOKCAY, G; EMRE, S; TANMAN, F et al.Journal of tropical pediatrics (1980). 1991, Vol 37, Num 4, pp 191-193, issn 0142-6338, 3 p.Article

WERNER SYNDROME: CLINICAL EVALUATION OF TWO CASES AND A NOVEL MUTATIONMANSUR, A. T; ELCIOGLU, N. H; DEMIRCI, G. T et al.Genetic counseling. 2014, Vol 25, Num 2, pp 119-127, issn 1015-8146, 9 p.Article

Spondyloepimetaphyseal dysplasia with multiple dislocations (Hall type): three further cases and evidence of autosomal dominant inheritanceHALL, C. M; ELCIOGLU, N. H; MACDERMOT, K. D et al.Journal of medical genetics. 2002, Vol 39, Num 9, pp 666-670, issn 0022-2593Article