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Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1

Linheng Li
Ian D. Krantz
Nancy B. Spinner
Research01 Jul 1997
Nature Genetics

Volume: 16, P: 243-251
The neuroanatomy of developmental language disorder: a systematic review and meta-analysis

Developmental language disorder is a common neurodevelopmental disorder whose adverse impacts continue into adulthood, but its neural bases have been unclear. This systematic review and meta-analysis identified and synthesized neuroanatomical studies of developmental language disorder using co-localization likelihood estimation.

Michael T. Ullman
Gillian M. Clark
Peter E. Turkeltaub
Research15 Mar 2024
Nature Human Behaviour

Volume: 8, P: 962-975
Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

Magdalena Koczkowska
Tom Callens
Ludwine M. Messiaen
ResearchOpen Access07 Sept 2018
Genetics in Medicine

Volume: 21, P: 867-876
Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management

Angela E Lin
Craig T Basson
Barbara R Pober
Reviews01 Jul 2008
Genetics in Medicine

Volume: 10, P: 469-494
Intrathecal enzyme replacement for Hurler syndrome: biomarker association with neurocognitive outcomes

Julie B. Eisengart
Elizabeth I. Pierpont
Troy C. Lund
ResearchOpen Access25 Apr 2019
Genetics in Medicine

Volume: 21, P: 2552-2560
Association between APOE4 and biomarkers in cerebral adrenoleukodystrophy

Paul J. Orchard
Todd W. Markowski
Troy C. Lund
ResearchOpen Access27 May 2019
Scientific Reports

Volume: 9, P: 1-10
Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

Magdalena Koczkowska
Tom Callens
Ludwine M. Messiaen
Amendments and Corrections02 Oct 2018
Genetics in Medicine

Volume: 21, P: 764-765

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Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1

The neuroanatomy of developmental language disorder: a systematic review and meta-analysis

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management

Intrathecal enzyme replacement for Hurler syndrome: biomarker association with neurocognitive outcomes

Association between APOE4 and biomarkers in cerebral adrenoleukodystrophy

Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

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Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1

The neuroanatomy of developmental language disorder: a systematic review and meta-analysis

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management

Intrathecal enzyme replacement for Hurler syndrome: biomarker association with neurocognitive outcomes

Association between APOE4 and biomarkers in cerebral adrenoleukodystrophy

Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

Search

Quick links