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MED23-associated intellectual disability in a non-consanguineous family

American journal of medical genetics. Part A, 2015-06, Vol.167A (6), p.1374-1380

2015

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Effect of early postpartum teaching on primiparas' knowledge of infant behavior and degree of confidence

Research in nursing & health, 1986-09, Vol.9 (3), p.209-214

1986

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A Mosaic Activating Mutation in AKT1 Associated with the Proteus Syndrome

The New England journal of medicine, 2011-08, Vol.365 (7), p.611-619

2011

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1,25-(OH)2D-24 Hydroxylase (CYP24A1) Deficiency as a Cause of Nephrolithiasis

Clinical journal of the American Society of Nephrology, 2013-04, Vol.8 (4), p.649-657

2013

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The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations

American journal of medical genetics. Part A, 2016-01, Vol.170A (1), p.103-115

2016

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Functional analysis of a de novo GRIN2A missense mutation associated with early-onset epileptic encephalopathy

Nature communications, 2014-01, Vol.5 (1), p.3251-3251, Article 3251

2014

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Compound heterozygosity for loss‐of‐function GARS variants results in a multisystem developmental syndrome that includes severe growth retardation

Human mutation, 2017-10, Vol.38 (10), p.1412-1420

2017

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A BLOC-1 mutation screen reveals a novel BLOC1S3 mutation in Hermansky-Pudlak Syndrome type 8

Pigment cell and melanoma research, 2012-09, Vol.25 (5), p.584-591

2012

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GRIN2A mutation and early‐onset epileptic encephalopathy: personalized therapy with memantine

Annals of clinical and translational neurology, 2014-03, Vol.1 (3), p.190-198

2014

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Clinical and cellular characterisation of Hermansky–Pudlak syndrome type 6

Journal of medical genetics, 2009-12, Vol.46 (12), p.803-810

2009

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MRI/MRS as a surrogate marker for clinical progression in GM1 gangliosidosis

American journal of medical genetics. Part A, 2016-03, Vol.170A (3), p.634-644

2016

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Compound heterozygosity for loss-of-function GARS variants results in a multisystem developmental syndrome that includes severe growth retardation: OPRESCU et al

Human mutation, 2017-10, Vol.38 (10), p.1412-1420

2017

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Cover Image, Volume 38, Issue 10

Human mutation, 2017-10, Vol.38 (10), p.i-i

2017

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Compound Heterozygosity for Loss-of-Function GARS Variants Results in a Multi-System Developmental Syndrome that Includes Severe Growth Retardation

Human mutation, 2017-07, Vol.38 (10), p.1412-1420

2017

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Chediak-Higashi syndrome with early developmental delay resulting from paternal heterodisomy of chromosome 1

American journal of medical genetics. Part A, 2010-06, Vol.152A (6), p.1474-1483

2010

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Chediak-Higashi Syndrome With Pearly Developmental Delay Resulting From Paternal Heterodisomy of Chromosome 1

American journal of medical genetics. Part A, 2010, Vol.152 (6), p.1474-1483

2010

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MED23-associated intellectual disability in a non-consanguineous family

Effect of early postpartum teaching on primiparas' knowledge of infant behavior and degree of confidence

A Mosaic Activating Mutation in AKT1 Associated with the Proteus Syndrome

1,25-(OH)2D-24 Hydroxylase (CYP24A1) Deficiency as a Cause of Nephrolithiasis

The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations

Functional analysis of a de novo GRIN2A missense mutation associated with early-onset epileptic encephalopathy

Compound heterozygosity for loss‐of‐function GARS variants results in a multisystem developmental syndrome that includes severe growth retardation

A BLOC-1 mutation screen reveals a novel BLOC1S3 mutation in Hermansky-Pudlak Syndrome type 8

GRIN2A mutation and early‐onset epileptic encephalopathy: personalized therapy with memantine

Clinical and cellular characterisation of Hermansky–Pudlak syndrome type 6

MRI/MRS as a surrogate marker for clinical progression in GM1 gangliosidosis

Compound heterozygosity for loss-of-function GARS variants results in a multisystem developmental syndrome that includes severe growth retardation: OPRESCU et al

Cover Image, Volume 38, Issue 10

Compound Heterozygosity for Loss-of-Function GARS Variants Results in a Multi-System Developmental Syndrome that Includes Severe Growth Retardation

Correction: Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial m-AAA Proteases

Correction: Whole-Exome Sequencing Identifies Homozygous Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial -AAA Proteases

Chediak-Higashi syndrome with early developmental delay resulting from paternal heterodisomy of chromosome 1

Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial m-AAA Proteases: e1002325

Chediak-Higashi Syndrome With Pearly Developmental Delay Resulting From Paternal Heterodisomy of Chromosome 1

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