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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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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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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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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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Café noir spots: a feature of familial progressive hyper‐ and hypopigmentation

Journal of the European Academy of Dermatology and Venereology, 2020-02, Vol.34 (2), p.e76-e77

2020

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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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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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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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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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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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Homozygous FGF3 mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia

Clinical genetics, 2008-06, Vol.73 (6), p.554-565

2008

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Neurochemical evaluation of brain function with 1H magnetic resonance spectroscopy in patients with fragile X syndrome

American journal of medical genetics. Part A, 2014-01, Vol.164A (1), p.99-105

2014

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Distal partial trisomy 1q: report of two cases and a review of the literature

Prenatal diagnosis, 2007-09, Vol.27 (9), p.865-871

2007

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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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Partial trisomy 9q syndrome with a de novo tandem duplication of 9q22.2-q31.1

Genetic counseling, 2005, Vol.16 (4), p.407

2005

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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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Mosaicism for terminal deletion of 4q

Genetic counseling, 2006, Vol.17 (2), p.205

2006

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Kabuki syndrome and trisomy 10p

Genetic counseling, 2008-01, Vol.19 (3), p.291

2008

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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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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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Childhood parapneumonic effusions: biochemical and inflammatory markers

Chest, 2005-09, Vol.128 (3), p.1436-1441

2005

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Neurochemical evaluation of brain function with super(1)H magnetic resonance spectroscopy in patients with fragile X syndrome

American journal of medical genetics. Part A, 2014-01, Vol.164 (1), p.99-105

2014

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Distal partial trisomy lq : report of two cases and a review of the literature

Prenatal diagnosis, 2007, Vol.27 (9), p.865-871

2007

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Central precocious puberty in a girl with Williams syndrome: the result of treatment with GnRH analogue

European journal of medical genetics, 2006, Vol.49 (1), p.79-82

2006

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

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

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

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

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

Café noir spots: a feature of familial progressive hyper‐ and hypopigmentation

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

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

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

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

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

Homozygous FGF3 mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia

Neurochemical evaluation of brain function with 1H magnetic resonance spectroscopy in patients with fragile X syndrome

Distal partial trisomy 1q: report of two cases and a review of the literature

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

Partial trisomy 9q syndrome with a de novo tandem duplication of 9q22.2-q31.1

Opinions of Turkish physicians towards termination of pregnancy for fetal disorders

Mosaicism for terminal deletion of 4q

Kabuki syndrome and trisomy 10p

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

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

Childhood parapneumonic effusions: biochemical and inflammatory markers

Neurochemical evaluation of brain function with super(1)H magnetic resonance spectroscopy in patients with fragile X syndrome

Distal partial trisomy lq : report of two cases and a review of the literature

Central precocious puberty in a girl with Williams syndrome: the result of treatment with GnRH analogue

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