Expanding the genetic heterogeneity of intellectual disability.

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Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development.Modeling the neuropsychiatric manifestations of Lowe syndrome using induced pluripotent stem cells: defective F-actin polymerization and WAVE-1 expression in neuronal cells

P2860

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Expanding the genetic heterogeneity of intellectual disability.

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http://www.wikidata.org/entity/Q47644384

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年學術文章

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2017年學術文章

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name

Expanding the genetic heterogeneity of intellectual disability.

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Expanding the genetic heterogeneity of intellectual disability.

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type

Item

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Expanding the genetic heterogeneity of intellectual disability.

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Expanding the genetic heterogeneity of intellectual disability.

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prefLabel

Expanding the genetic heterogeneity of intellectual disability.

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Expanding the genetic heterogeneity of intellectual disability.

@nl

P1476

Expanding the genetic heterogeneity of intellectual disability.

@en

P2093

Abdulaziz Alsaman

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Adila Al Kindy

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Ahmad Alshaer

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Ahmed Rumayyan

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Ali Alasmari

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Amal Alhashem

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Ayman W El-Hattab

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Brahim Tabarki

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Caleb Bupp

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Dorota Monies

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P2860

Molecular cloning of a novel apoptosis-related gene, human Nap1 (NCKAP1), and its possible relation to Alzheimer disease

Homozygous null mutation in ODZ3 causes microphthalmia in humans

Down-regulation of DENN/MADD, a TNF receptor binding protein, correlates with neuronal cell death in Alzheimer's disease brain and hippocampal neurons

Insights regarding guanine nucleotide exchange from the structure of a DENN-domain protein complexed with its Rab GTPase substrate

The SWISS-MODEL workspace: a web-based environment for protein structure homology modelling

NKCC1 transporter facilitates seizures in the developing brain

Role of Rab3 GDP/GTP exchange protein in synaptic vesicle trafficking at the mouse neuromuscular junction

In vivo deletion of immunoglobulin domains 5 and 6 in neurofascin (Nfasc) reveals domain-specific requirements in myelinated axons

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

SLK-dependent activation of ERMs controls LGN-NuMA localization and spindle orientation

P2888

s00439-017-1843-2

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1419-1429

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scholarly article

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10.1007/S00439-017-1843-2

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11-12

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136

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2017-09-22T00:00:00Z

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28940097

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Expanding the genetic heterogeneity of intellectual disability.

about

P2860

P2860

Expanding the genetic heterogeneity of intellectual disability.

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