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Compound heterozygous variants within two conserved sialyltransferase motifs of ST3GAL5 cause GM3 synthase deficiency

JIMD reports, 2023-03, Vol.64 (2), p.138-145

2023

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Functional analysis of a novel mutation in the TIMM8A gene that causes deafness‐dystonia‐optic neuronopathy syndrome

Molecular genetics & genomic medicine, 2020-03, Vol.8 (3), p.e1121-n/a

2020

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ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons

Human molecular genetics, 2015-09, Vol.24 (17), p.4848-4861

2015

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A novel partial duplication in OPHN1, associated with vermis cerebellar hypoplasia, seizures and developmental delay

Gene reports, 2022-06, Vol.27, p.101590, Article 101590

2022

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A distinct X-linked syndrome involving joint contractures, keloids, large optic cup-to-disc ratio, and renal stones results from a filamin A (FLNA) mutation

American journal of medical genetics. Part A, 2016-04, Vol.170A (4), p.881-890

2016

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An unusual cause for Coffin–Lowry syndrome: Three brothers with a novel microduplication in RPS6KA3

American journal of medical genetics. Part A, 2019-12, Vol.179 (12), p.2357-2364

2019

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Prenatal Diagnosis of L1 Cell Adhesion Molecule Mutations

Fetal diagnosis and therapy, 2002, Vol.17 (2), p.115-119

2002

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Novel human pathological mutations. Gene symbol: JARID1C. Disease: mental retardation, X-linked

Human genetics, 2009-04, Vol.125 (3), p.344-344

2009

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Hydrocephalus and intestinal aganglionosis: Is L1CAM a modifier gene in Hirschsprung disease?

American journal of medical genetics, 2002-02, Vol.108 (1), p.51-56

2002

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Compound heterozygous variants within two conserved sialyltransferase motifs of ST3GAL5 cause GM3 synthase deficiency

JIMD reports, 2023, Vol.64 (2), p.138-145

2023

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Novel human pathological mutations. Gene symbol: JARID1C. Disease: mental retardation, X-linked

Human genetics, 2009-04, Vol.125 (3), p.345

2009

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Novel human pathological mutations. Gene symbol: JARID1C. Disease: mental retardation, X-linked

Human genetics, 2009-04, Vol.125 (3), p.345-345

2009

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Diffusion-weighted magnetic resonance imaging in boys with neural cell adhesion molecule L1 mutations and congenital hydrocephalus

Annals of neurology, 2000-01, Vol.47 (1), p.113-117

2000

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Prenatal diagnosis of L1 cell adhesion molecule mutations: Capabilities and limitations

Fetal diagnosis and therapy, 2002-03, Vol.17 (2), p.115-119

2002

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Hydrocephalus and intestinal aganglionosis: Is L1CAM a modifier gene in Hirschsprung disease?

American Journal of Medical Genetics, 2002, Vol.108 (1), p.51-56

2002

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Association of the PHACTR1/EDN1 Genetic Locus With Spontaneous Coronary Artery Dissection

Journal of the American College of Cardiology, 2019-01, Vol.73 (1), p.58-66

2019

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Isotopic and elemental partitioning of boron between hydrous fluid and silicate melt

The American mineralogist, 2002-05, Vol.87 (5-6), p.769-774

2002

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Boron isotope geochemistry during diagenesis. Part I. Experimental determination of fractionation during illitization of smectite

Geochimica et cosmochimica acta, 2001-06, Vol.65 (11), p.1769-1782

2001

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Relationship Between Risk Factors and Mortality in Type 1 Diabetic Patients in Europe: The EURODIAB Prospective Complications Study (PCS)

Diabetes care, 2008-07, Vol.31 (7), p.1360-1366

2008

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Organic molecules formed in a “primordial womb”

Geology (Boulder), 2005-11, Vol.33 (11), p.913

2005

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Journaling With Poetry: Embracing Change Through Poetic Process

Transformational Journaling for Coaches, Therapists, and Clients, 2021, p.295-300

1, 2021

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Validation of a Multivariate Serum Profile for Epithelial Ovarian Cancer Using a Prospective Multi-Site Collection

Nature precedings, 2010-07

2010

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Antihypertensive therapy for preventing cardiovascular complications in people with diabetes mellitus

Cochrane library, 1997-10, Vol.2010 (1)

Stevens, Lynda

1997

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ASSESSING THE QUALITY OF LIFE OF THE LONG‐TERM MENTALLY ILL: A COMPARATIVE STUDY OF TWO MEASURES

International journal of methods in psychiatric research, 1996-10, Vol.6 (3), p.161-166

1996

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Understanding Quality of Life: A Comparison between Staff and Patients

Social work & social sciences review, 1995-01, Vol.6 (2), p.117-129

1995

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Compound heterozygous variants within two conserved sialyltransferase motifs of ST3GAL5 cause GM3 synthase deficiency

Functional analysis of a novel mutation in the TIMM8A gene that causes deafness‐dystonia‐optic neuronopathy syndrome

ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons

A novel partial duplication in OPHN1, associated with vermis cerebellar hypoplasia, seizures and developmental delay

A distinct X-linked syndrome involving joint contractures, keloids, large optic cup-to-disc ratio, and renal stones results from a filamin A (FLNA) mutation

An unusual cause for Coffin–Lowry syndrome: Three brothers with a novel microduplication in RPS6KA3

Prenatal Diagnosis of L1 Cell Adhesion Molecule Mutations

Novel human pathological mutations. Gene symbol: JARID1C. Disease: mental retardation, X-linked

Hydrocephalus and intestinal aganglionosis: Is L1CAM a modifier gene in Hirschsprung disease?

Compound heterozygous variants within two conserved sialyltransferase motifs of ST3GAL5 cause GM3 synthase deficiency

Novel human pathological mutations. Gene symbol: JARID1C. Disease: mental retardation, X-linked

Novel human pathological mutations. Gene symbol: JARID1C. Disease: mental retardation, X-linked

Diffusion-weighted magnetic resonance imaging in boys with neural cell adhesion molecule L1 mutations and congenital hydrocephalus

Prenatal diagnosis of L1 cell adhesion molecule mutations: Capabilities and limitations

Hydrocephalus and intestinal aganglionosis: Is L1CAM a modifier gene in Hirschsprung disease?

Association of the PHACTR1/EDN1 Genetic Locus With Spontaneous Coronary Artery Dissection

Isotopic and elemental partitioning of boron between hydrous fluid and silicate melt

Boron isotope geochemistry during diagenesis. Part I. Experimental determination of fractionation during illitization of smectite

Relationship Between Risk Factors and Mortality in Type 1 Diabetic Patients in Europe: The EURODIAB Prospective Complications Study (PCS)

Organic molecules formed in a “primordial womb”

Journaling With Poetry: Embracing Change Through Poetic Process

Validation of a Multivariate Serum Profile for Epithelial Ovarian Cancer Using a Prospective Multi-Site Collection

Antihypertensive therapy for preventing cardiovascular complications in people with diabetes mellitus

ASSESSING THE QUALITY OF LIFE OF THE LONG‐TERM MENTALLY ILL: A COMPARATIVE STUDY OF TWO MEASURES

Understanding Quality of Life: A Comparison between Staff and Patients

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