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M

Mahshid S. Azamian

baylor college of medicine
H指数:32
被引数:3,515

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New genotype-phenotype correlations and management recommendations for individuals with RERE variants

新型基因型-表型相关性及RERE变异个体的管理建议

2026-04-150
PRE
Rare heterozygous de novo variants in RAPGEF2 are associated with a neurodevelopmental disorder

RARE HETEROZYGOUS DE NOVO VARIANTS IN RAPGEF2与神经发育障碍相关

2026-02-010
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LONP1 Variants Are Associated With Clinically Diverse Phenotypes

LONP1 变体与临床表型多样性相关

2025-09-100
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Rare Variant in MRC2 Associated With Familial Supraventricular Tachycardia and Wolff-Parkinson-White Syndrome

MRC2的罕见变异与家族性室上性心动过速和wolff-parkinson-white综合征相关

2024-08-010
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Monoallelic de novo AJAP1 loss-of-function variants disrupt trans-synaptic control of neurotransmitter release
2024-07-120
OAAI
Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation
2024-01-082
OAAI
Dominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay
2023-06-146
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Natural history of TANGO2 deficiency disorder: Baseline assessment of 73 patients
2023-04-0114
OAAI
Cardiac crises: Cardiac arrhythmias and cardiomyopathy during TANG02 deficiency related metabolic crises
2022-10-0115
OAAI
Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency

与PAX5单倍体不足相关的新型神经发育综合征的描述

2022-01-308
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Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

PRKAR1B的变异导致自闭症谱系障碍,失用症和对疼痛不敏感的神经发育障碍

2021-08-0115
OAAI
Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing
2020-09-0117
OAAI
Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling

USP9X功能的部分丧失导致男性神经发育和行为障碍收敛于转化生长因子 β 信号传导

2020-01-0149
OAAI