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D

Dalal Bubshait

imam abdulrahman bin faisal university
H指数:16
被引数:1,434

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High-throughput evidence generation to support tentative gene-disease relationship from a cohort enriched for autozygosity and founder effect

高通量证据生成以支持来自富集自交亲和奠基者效应队列的候选基因-疾病关系

2026-08-010
PRE
BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients

BRAT1-related疾病: 97例患者的表型谱和表型-基因型相关性

2023-06-217
PRE
Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications
2022-08-0111
OAAI
The morbid genome of ciliopathies: an update (vol 22, pg 1051, 2021)
2022-04-015
OA
Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies
2021-11-0114
OAAI
The morbid genome of ciliopathies: an update
2020-06-0175
OAAI
Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population (vol 104, pg 1182, 2019)
2019-10-0120
OAAI
Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population
2019-06-01206
OAAI
Autozygome and high throughput confirmation of disease genes candidacy
2019-03-0186
OAAI
Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases
2017-12-2055
OAAI
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes
2017-06-09223
OAAI