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Al‐Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2‐Related Disorders

Journal of bone and mineral research, 2023-05, Vol.38 (5), p.692-706

2023

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An eight‐case 1q21 region series: novel aberrations and clinical variability with new features

Journal of intellectual disability research, 2019-06, Vol.63 (6), p.548-557

2019

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Functional analysis of a duplication (p.E63_D69dup) in the switch II region of HRAS: new aspects of the molecular pathogenesis underlying Costello syndrome

Human molecular genetics, 2013-04, Vol.22 (8), p.1643-1653

2013

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Arthrogryposis multiplex congenita (AMC): Spectrum and classification at a tertiary referral center

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S107-S107

2016

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P193 – 2860: Many faces of Rett syndrome: Is there still a diagnostic delay?

European journal of paediatric neurology, 2015-05, Vol.19, p.S148-S148

2015

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PRRX1 is mutated in an otocephalic newborn infant conceived by consanguineous parents

Clinical genetics, 2012-03, Vol.81 (3), p.294-297

2012

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G.P.24

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9), p.801-801

2014

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Diagnostic yield of microarrays in individuals with non‐syndromic developmental delay and intellectual disability

Journal of intellectual disability research, 2021-12, Vol.65 (12), p.1033-1048

2021

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Diagnostic yield of whole‐exome sequencing in non‐syndromic intellectual disability

Journal of intellectual disability research, 2021-06, Vol.65 (6), p.577-588

2021

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Three cases of spondyloenchondrodysplasia (SPENCD) with systemic lupus erythematosus: a case series and review of the literature

Lupus, 2016-06, Vol.25 (7), p.760-765

2016

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Genetic IGF1R defects: new cases expand the spectrum of clinical features

Journal of endocrinological investigation, 2020-12, Vol.43 (12), p.1739-1748

2020

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Pulmonary agenesis and pulmonary sling anomaly in an infant with Down syndrome

Genetic counseling, 2013-01, Vol.24 (3), p.337

2013

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Wildervanck syndrome: An uncommon cause of Duane syndrome

Journal francais d'ophtalmologie, 2014-10, Vol.37 (8), p.e123-e124

2014

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Neocentric small supernumerary marker chromosomes (sSMC) – three more cases and review of the literature

Cytogenetic and genome research, 2007-01, Vol.118 (1), p.31-37

2007

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Mucolipidosis type III in an adolescent presenting with atypical facial features and skeletal deformities

Genetic counseling, 2013, Vol.24 (1), p.7

2013

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Clinical and molecular analysis of RASopathies in a group of Turkish patients

Clinical genetics, 2013-02, Vol.83 (2), p.181-186

2013

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P.58 - Arthrogryposis multiplex congenita (AMC): Spectrum and classification at a tertiary referral center

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S107-S107

2016

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A multidisciplinary approach to the management of individuals with fragile X syndrome

Journal of intellectual disability research, 2007-02, Vol.51 (2), p.151-161

2007

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Clinical and Radiographic Features of the Autosomal Recessive form of Brachyolmia Caused by PAPSS2 Mutations

Human mutation, 2013-10, Vol.34 (10), p.1381-1386

2013

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Parental factors in prenatal decision making and the impact of prenatal genetic counseling: a study on Turkish families

Genetic counseling, 2014, Vol.25 (1), p.53

2014

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Al-Gazali skeletal dysplasia constitutes the lethal end of ADAMTSL2 -related disorders

EUROPEAN JOURNAL OF HUMAN GENETICS, 2022, Vol.30 (SUPPL 1), p.41

2022

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677→CT mutation on the methylenetetrahydrofolate reductase gene is not a risk factor for neural tube defects in Turkey

Archives of disease in childhood. Fetal and neonatal edition, 1998-05, Vol.78 (3), p.F234-F235

1998

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Neural tube defects in Turkey: prevalence, distribution and risk factors

Turkish journal of pediatrics, 1999-07, Vol.41 (3), p.299

1999

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Searching for Copy Number Changes in Nonsyndromic X-Linked Intellectual Disability

Molecular syndromology, 2012, Vol.2 (2), p.64-71

2012

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Opinions of Turkish physicians towards termination of pregnancy for fetal disorders

Genetic counseling, 2011-01, Vol.22 (4), p.401

2011

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Al‐Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2‐Related Disorders

An eight‐case 1q21 region series: novel aberrations and clinical variability with new features

Functional analysis of a duplication (p.E63_D69dup) in the switch II region of HRAS: new aspects of the molecular pathogenesis underlying Costello syndrome

Arthrogryposis multiplex congenita (AMC): Spectrum and classification at a tertiary referral center

P193 – 2860: Many faces of Rett syndrome: Is there still a diagnostic delay?

PRRX1 is mutated in an otocephalic newborn infant conceived by consanguineous parents

G.P.24

Diagnostic yield of microarrays in individuals with non‐syndromic developmental delay and intellectual disability

Diagnostic yield of whole‐exome sequencing in non‐syndromic intellectual disability

Three cases of spondyloenchondrodysplasia (SPENCD) with systemic lupus erythematosus: a case series and review of the literature

Genetic IGF1R defects: new cases expand the spectrum of clinical features

Pulmonary agenesis and pulmonary sling anomaly in an infant with Down syndrome

Wildervanck syndrome: An uncommon cause of Duane syndrome

Neocentric small supernumerary marker chromosomes (sSMC) – three more cases and review of the literature

Mucolipidosis type III in an adolescent presenting with atypical facial features and skeletal deformities

Clinical and molecular analysis of RASopathies in a group of Turkish patients

P.58 - Arthrogryposis multiplex congenita (AMC): Spectrum and classification at a tertiary referral center

A multidisciplinary approach to the management of individuals with fragile X syndrome

Clinical and Radiographic Features of the Autosomal Recessive form of Brachyolmia Caused by PAPSS2 Mutations

Parental factors in prenatal decision making and the impact of prenatal genetic counseling: a study on Turkish families

Al-Gazali skeletal dysplasia constitutes the lethal end of ADAMTSL2 -related disorders

677→CT mutation on the methylenetetrahydrofolate reductase gene is not a risk factor for neural tube defects in Turkey

Neural tube defects in Turkey: prevalence, distribution and risk factors

Searching for Copy Number Changes in Nonsyndromic X-Linked Intellectual Disability

Opinions of Turkish physicians towards termination of pregnancy for fetal disorders

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