Unraveling the disease pathogenesis behind lethal hydrolethalus syndrome revealed multiple changes in molecular and cellular level. - Wikidata - wikimedia - TriplyDB

Unraveling the disease pathogenesis behind lethal hydrolethalus syndrome revealed multiple changes in molecular and cellular level.

Unraveling the disease pathogenesis behind lethal hydrolethalus syndrome revealed multiple changes in molecular and cellular level.

http://www.wikidata.org/entity/Q37202957

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Primary cilia in neurodevelopmental disorders.A novel HYLS1 homozygous mutation in living siblings with Joubert syndrome.Recessive NEK9 mutation causes a lethal skeletal dysplasia with evidence of cell cycle and ciliary defects.

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Unraveling the disease pathogenesis behind lethal hydrolethalus syndrome revealed multiple changes in molecular and cellular level.

http://www.wikidata.org/entity/Q37202957

description

article científic

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article scientifique

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articolo scientifico

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bilimsel makale

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scientific article published on 28 April 2009

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vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

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name

Unraveling the disease pathoge ...... molecular and cellular level.

@en

Unraveling the disease pathoge ...... molecular and cellular level.

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type

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Unraveling the disease pathoge ...... molecular and cellular level.

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Unraveling the disease pathoge ...... molecular and cellular level.

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Unraveling the disease pathoge ...... molecular and cellular level.

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Unraveling the disease pathoge ...... molecular and cellular level.

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Unraveling the disease pathoge ...... molecular and cellular level.

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Heli Fox

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Heli Honkala

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Jenni Lahtela

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Kirmo Wartiovaara

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Marjo Kestilä

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Massimiliano Gentile

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Niklas Pakkasjärvi

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Riitta Salonen

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P2860

Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1

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Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene

WebGestalt: an integrated system for exploring gene sets in various biological contexts.

A simple method for the isolation and purification of total lipides from animal tissues

Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus and postaxial polydactyly--a new syndrome? Part I: clinical, causal, and pathogenetic considerations

A multiplex human syndrome implicates a key role for intestinal cell kinase in development of central nervous, skeletal, and endocrine systems.

Hydrolethalus syndrome.

Linkage mapping and phenotypic analysis of autosomal dominant Pallister-Hall syndrome

Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations

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