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A second case of Okamoto syndrome caused by HNRNPK mutation

American journal of medical genetics. Part A, 2020-06, Vol.182 (6), p.1537-1539

2020

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Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type

American journal of human genetics, 2015-12, Vol.97 (6), p.790-800

2015

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Two novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy

American journal of medical genetics. Part A, 2016-11, Vol.170A (11), p.2927-2933

2016

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CAMTA1‐related disorder: Phenotypic and molecular characterization of 26 new individuals and literature review

Clinical genetics, 2024-03, Vol.105 (3), p.294-301

2024

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FOXP1-related intellectual disability syndrome: a recognisable entity

Journal of medical genetics, 2017-09, Vol.54 (9), p.613-623

2017

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Expanding phenotype of p.Ala140Val mutation in MECP2 in a 4 generation family with X-linked intellectual disability and spasticity

European journal of medical genetics, 2016-10, Vol.59 (10), p.522-525

2016

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Biallelic mutations in RTTN are associated with microcephaly, short stature and a wide range of brain malformations

European journal of medical genetics, 2018-12, Vol.61 (12), p.733-737

2018

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Expanding the phenotypic spectrum associated with OPHN1 mutations: Report of 17 individuals with intellectual disability but no cerebellar hypoplasia

European journal of medical genetics, 2018-08, Vol.61 (8), p.442-450

2018

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Functional assessment of creatine transporter in control and X-linked SLC6A8-deficient fibroblasts

Molecular genetics and metabolism, 2018-04, Vol.123 (4), p.463-471

2018

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Broadening the phenotypic spectrum and physiological insights related to EIF2S3 variants

Human mutation, 2021-07, Vol.42 (7), p.827-834

2021

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A new Turkish infant with clinical features of CS/CISS1 syndrome and homozygous CRLF1 mutation

European journal of medical genetics, 2014-04, Vol.57 (5), p.212-215

2014

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Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology

HGG advances, 2022-07, Vol.3 (3), p.100102-100102, Article 100102

2022

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Erratum: Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology

HGG advances, 2023-01, Vol.4 (1), p.100168-100168

2023

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Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology

HGG advances, 2023-01, Vol.4 (1), p.100168, Article 100168

2023

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Neurological outcome in WDR62 primary microcephaly

Developmental medicine and child neurology, 2022-04, Vol.64 (4), p.509-517

2022

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Developmental delay and facial dysmorphism in a child with an 8.9 Mb de novo interstitial deletion of 3q25.1–q25.32: Genotype–phenotype correlations of chromosome 3q25 deletion syndrome

European journal of medical genetics, 2011-03, Vol.54 (2), p.177-180

2011

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Severe ostial stenosis of the left coronary artery in a 12-year-old girl as the first manifestation of Takayasu's arteritis

Acta Cardiologica, 2009-12, Vol.64 (6), p.825-829

2009

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Phenotypes and genotypes in non‐consanguineous and consanguineous primary microcephaly: High incidence of epilepsy

Molecular genetics & genomic medicine, 2021-09, Vol.9 (9), p.e1768-n/a

2021

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Unexpected Pulseless Disease Associated With Recurrent Venous Thromboembolisms

Clinical and applied thrombosis/hemostasis, 2009-04, Vol.15 (2), p.239-240

2009

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Second N-ECCO Consensus Statements on the European Nursing Roles in Caring for Patients with Crohn’s Disease or Ulcerative Colitis

Journal of Crohn's and colitis, 2018-06, Vol.12 (7), p.760-776

2018

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HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients

A second case of Okamoto syndrome caused by HNRNPK mutation

Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type

Two novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy

CAMTA1‐related disorder: Phenotypic and molecular characterization of 26 new individuals and literature review

FOXP1-related intellectual disability syndrome: a recognisable entity

Expanding phenotype of p.Ala140Val mutation in MECP2 in a 4 generation family with X-linked intellectual disability and spasticity

Biallelic mutations in RTTN are associated with microcephaly, short stature and a wide range of brain malformations

Expanding the phenotypic spectrum associated with OPHN1 mutations: Report of 17 individuals with intellectual disability but no cerebellar hypoplasia

Functional assessment of creatine transporter in control and X-linked SLC6A8-deficient fibroblasts

Broadening the phenotypic spectrum and physiological insights related to EIF2S3 variants

Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature

A new Turkish infant with clinical features of CS/CISS1 syndrome and homozygous CRLF1 mutation

Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology

Erratum: Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology

A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria

Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology

Neurological outcome in WDR62 primary microcephaly

Developmental delay and facial dysmorphism in a child with an 8.9 Mb de novo interstitial deletion of 3q25.1–q25.32: Genotype–phenotype correlations of chromosome 3q25 deletion syndrome

Severe ostial stenosis of the left coronary artery in a 12-year-old girl as the first manifestation of Takayasu's arteritis

Phenotypes and genotypes in non‐consanguineous and consanguineous primary microcephaly: High incidence of epilepsy

Unexpected Pulseless Disease Associated With Recurrent Venous Thromboembolisms

Second N-ECCO Consensus Statements on the European Nursing Roles in Caring for Patients with Crohn’s Disease or Ulcerative Colitis

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