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Genotype-phenotype analysis of 4q deletion syndrome: Proposal of a critical region

American journal of medical genetics. Part A, 2012-09, Vol.158A (9), p.2139-2151

2012

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The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: lessons learned from infantile Pompe disease

Genetics in medicine, 2011-08, Vol.13 (8), p.729-736

2011

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Redefining the Etiologic Landscape of Cerebellar Malformations

American journal of human genetics, 2019-09, Vol.105 (3), p.606-615

2019

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Clinical features, functional consequences, and rescue pharmacology of missense GRID1 and GRID2 human variants

Human molecular genetics, 2024-02, Vol.33 (4), p.355-373

2024

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Börjeson-Forssman-Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families

European journal of human genetics : EJHG, 2023-12, Vol.31 (12), p.1421-1429

2023

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HNRNPR Variants that Impair Homeobox Gene Expression Drive Developmental Disorders in Humans

American journal of human genetics, 2019-06, Vol.104 (6), p.1040-1059

2019

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Recessive Mutations in the Gene Encoding the Tight Junction Protein Occludin Cause Band-like Calcification with Simplified Gyration and Polymicrogyria

American journal of human genetics, 2010-09, Vol.87 (3), p.354-364

2010

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PIGG variant pathogenicity assessment reveals characteristic features within 19 families

Genetics in medicine, 2021-10, Vol.23 (10), p.1873-1881

2021

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Case Report: Genetic analysis and anesthetic management of a child with Niemann-Pick disease Type A

F1000 research, 2015, Vol.4, p.1423-1423

2015

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Trisomy 12 and Triploidy in an Infant: An Unusual Case of Diploid/Triploid Mixoploidy

Cancer genetics, 2016-05, Vol.209 (5), p.248-249

2016

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“Mosaic trachea” in a child with trisomy 9 mosaicism

International journal of pediatric otorhinolaryngology, 2010-10, Vol.74 (10), p.1193-1195

2010

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The Frequency of Uniparental Disomy in Prader-Willi Syndrome: Implications for Molecular Diagnosis

The New England journal of medicine, 1992-06, Vol.326 (24), p.1599-1607

1992

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Duplication of the distal long arm of chromosome 15: Report of three new patients and review of the literature

American journal of medical genetics, 2004-05, Vol.126A (4), p.398-402

2004

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60 - Trisomy 12 and Triploidy in an Infant: An Unusual Case of Diploid/Triploid Mixoploidy

Cancer genetics, 2016-05, Vol.209 (5), p.248-249

2016

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Hereditary Factors in Sleepwalking and Night Terrors

British journal of psychiatry, 1980-08, Vol.137 (2), p.111-118

1980

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Previously apparently undescribed syndrome: Shallow orbits, ptosis, coloboma, trigonocephaly, gyral malformations, and mental and growth retardation

American journal of medical genetics, 1995-07, Vol.57 (3), p.403-409

1995

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Inheritance of an RNA splicing mutation (G+1IVS20) in the type III procollagen gene (COL3Al) in a family having aortic aneurysms and easy bruisability : phenotypic overlap between familial arterial aneurysms and Ehlers-Danlos syndrome type IV

American journal of human genetics, 1990-07, Vol.47 (1), p.112-120

1990

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Absence of linkage of apparently single gene mediated ADHD with the human syntenic region of the mouse mutant Coloboma

American journal of medical genetics, 1995-12, Vol.60 (6), p.573-579

1995

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A new missense mutation, Arg719Gln, in the β-cardiac heavy chain myosin gene of patients with familial hypertrophic cardiomyopathy

Human molecular genetics, 1994-06, Vol.3 (6), p.1025-1026

1994

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"Marden-Walker Syndrome": Neuropathologic Findings in Two Siblings

Fetal and pediatric pathology, 1990, Vol.10 (5), p.807-818

1990

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Quantitation of Phosphatidylcholine Secretion in Lung Slices and Primary Cultures of Rat Lung Cells

Proceedings of the National Academy of Sciences - PNAS, 1979-08, Vol.76 (8), p.4102-4106

1979

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Familial leuconychia, knuckle pads, hearing loss, and palmoplantar hyperkeratosis: an additional family with Bart-Pumphrey syndrome

Journal of medical genetics, 1994-01, Vol.31 (1), p.68-71

1994

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Chromosomal Abnormalities Associated with Infertility

Obstetrics and gynecology (New York. 1953), 1980-04, Vol.55 (4), p.469-475

1980

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Introduction of a Heterologous Nucleus into Enucleated Cytoplasms of Cultured Mouse L-Cells

Proceedings of the National Academy of Sciences - PNAS, 1970-11, Vol.67 (3), p.1528-1533

1970

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Genotype-phenotype analysis of 4q deletion syndrome: Proposal of a critical region

The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: lessons learned from infantile Pompe disease

Redefining the Etiologic Landscape of Cerebellar Malformations

Clinical features, functional consequences, and rescue pharmacology of missense GRID1 and GRID2 human variants

Börjeson-Forssman-Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families

HNRNPR Variants that Impair Homeobox Gene Expression Drive Developmental Disorders in Humans

High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44

Recessive Mutations in the Gene Encoding the Tight Junction Protein Occludin Cause Band-like Calcification with Simplified Gyration and Polymicrogyria

PIGG variant pathogenicity assessment reveals characteristic features within 19 families

Case Report: Genetic analysis and anesthetic management of a child with Niemann-Pick disease Type A

Trisomy 12 and Triploidy in an Infant: An Unusual Case of Diploid/Triploid Mixoploidy

“Mosaic trachea” in a child with trisomy 9 mosaicism

The Frequency of Uniparental Disomy in Prader-Willi Syndrome: Implications for Molecular Diagnosis

Duplication of the distal long arm of chromosome 15: Report of three new patients and review of the literature

60 - Trisomy 12 and Triploidy in an Infant: An Unusual Case of Diploid/Triploid Mixoploidy

Hereditary Factors in Sleepwalking and Night Terrors

Previously apparently undescribed syndrome: Shallow orbits, ptosis, coloboma, trigonocephaly, gyral malformations, and mental and growth retardation

Inheritance of an RNA splicing mutation (G+1IVS20) in the type III procollagen gene (COL3Al) in a family having aortic aneurysms and easy bruisability : phenotypic overlap between familial arterial aneurysms and Ehlers-Danlos syndrome type IV

Absence of linkage of apparently single gene mediated ADHD with the human syntenic region of the mouse mutant Coloboma

A new missense mutation, Arg719Gln, in the β-cardiac heavy chain myosin gene of patients with familial hypertrophic cardiomyopathy

"Marden-Walker Syndrome": Neuropathologic Findings in Two Siblings

Quantitation of Phosphatidylcholine Secretion in Lung Slices and Primary Cultures of Rat Lung Cells

Familial leuconychia, knuckle pads, hearing loss, and palmoplantar hyperkeratosis: an additional family with Bart-Pumphrey syndrome

Chromosomal Abnormalities Associated with Infertility

Introduction of a Heterologous Nucleus into Enucleated Cytoplasms of Cultured Mouse L-Cells

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