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G

Glen R. Monroe

centre national de la recherche scientifique (cnrs)
H指数:22
被引数:2,058

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CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (vol 9, 4619, 2018)
2019-05-021
OAAI
Identification of human D lactate dehydrogenase deficiency

人D-乳酸脱氢酶缺乏症的鉴定

2019-04-0160
OAAI
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (vol 9, 4619, 2018)
2019-02-150
OAAI
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
2018-11-0575
OAAI
KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis
2018-01-0139
OAAI
Synaptic UNC13A protein variant causes increased neurotransmission and dyskinetic movement disorder
2017-02-1385
OA
De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms
2016-10-01108
OAAI
Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability

智障儿童全外显子组测序的有效性和传统诊断轨迹的成本

2016-09-01140
OAAI
Compound heterozygous NEK1 variants in two siblings with oral-facial-digital syndrome type II (Mohr syndrome)
2016-08-1716
OAAI
Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity
2016-03-2243
OAAI
Prioritization and burden analysis of rare variants in 208 candidate genes suggest they do not play a major role in CAKUT
2016-02-0176
OA
MKS1 regulates ciliary INPP5E levels in Joubert syndrome
2015-10-2143
OA