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CRB2 Mutations Produce a Phenotype Resembling Congenital Nephrosis, Finnish Type, with Cerebral Ventriculomegaly and Raised Alpha-Fetoprotein

American journal of human genetics, 2015-01, Vol.96 (1), p.162-169

2015

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A SOX5 gene variant as a possible contributor to short stature

Endocrinology, diabetes & metabolism case reports, 2020-12, Vol.2020 (1), p.1-5

2020

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Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase

American journal of human genetics, 2024-04, Vol.111 (4), p.729-741

2024

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A small homozygous microdeletion of 15q13.3 including the CHRNA7 gene in a girl with a spectrum of severe neurodevelopmental features

American journal of medical genetics. Part A, 2011-11, Vol.155 (11), p.2795-2800

2011

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Practical Aspects of Recruitment and Retention in Clinical Trials of Rare Genetic Diseases: The Phenylketonuria (PKU) Experience

Journal of genetic counseling, 2014-02, Vol.23 (1), p.20-28

2014

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Array CGH as a first-tier test for neonates with congenital heart disease

Cardiology in the young, 2015-01, Vol.25 (1), p.115-122

2015

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Three Supernumerary Marker Chromosomes in a Patient with Developmental Delay, Mental Retardation, and Dysmorphic Features

Genetics Research International, 2011-01, Vol.2011, p.185271-7

2011

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Triheptanoin therapy for inherited disorders of fatty acid oxidation

Mitochondrion, 2012-09, Vol.12 (5), p.566

2012

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A small homozygous microdeletion of 15q13.3 including the CHRNA7 gene in a girl with a spectrum of severe neurodevelopmental features

American Journal of Medical Genetics Part A, 2011, Vol.155A (11), p.2795-2800

2011

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Three supernumerary marker chromosomes in a patient with developmental delay, mental retardation, and dysmorphic features

Genetics research international, 2011, Vol.2011, p.185271-185271

2011

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Triheptanoin versus trioctanoin for long-chain fatty acid oxidation disorders: a double blinded, randomized controlled trial

Journal of inherited metabolic disease, 2017-11, Vol.40 (6), p.831-843

2017

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Expansion of phenotype and genotypic data in CRB2-related syndrome

European journal of human genetics : EJHG, 2016-10, Vol.24 (10), p.1436-1444

2016

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Infantile Hypophosphatasia Secondary to a Novel Compound Heterozygous Mutation Presenting with Pyridoxine-Responsive Seizures

JIMD Reports - Volume 11, 2013, Vol.11, p.17-24

2013

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CRB2 Mutations Produce a Phenotype Resembling Congenital Nephrosis, Finnish Type, with Cerebral Ventriculomegaly and Raised Alpha-Fetoprotein

A SOX5 gene variant as a possible contributor to short stature

Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase

A small homozygous microdeletion of 15q13.3 including the CHRNA7 gene in a girl with a spectrum of severe neurodevelopmental features

Practical Aspects of Recruitment and Retention in Clinical Trials of Rare Genetic Diseases: The Phenylketonuria (PKU) Experience

Array CGH as a first-tier test for neonates with congenital heart disease

Three Supernumerary Marker Chromosomes in a Patient with Developmental Delay, Mental Retardation, and Dysmorphic Features

Triheptanoin therapy for inherited disorders of fatty acid oxidation

A small homozygous microdeletion of 15q13.3 including the CHRNA7 gene in a girl with a spectrum of severe neurodevelopmental features

Three supernumerary marker chromosomes in a patient with developmental delay, mental retardation, and dysmorphic features

Triheptanoin versus trioctanoin for long-chain fatty acid oxidation disorders: a double blinded, randomized controlled trial

Expansion of phenotype and genotypic data in CRB2-related syndrome

Infantile Hypophosphatasia Secondary to a Novel Compound Heterozygous Mutation Presenting with Pyridoxine-Responsive Seizures

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