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Usha Kini

universite paris cite
H指数:51
被引数:8,441

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Impact of rapid genomic testing on clinical outcomes of acutely unwell children presenting with severe epilepsy

快速基因组检测对急性危重且伴有严重癫痫的儿童临床结局的影响

2025-05-210
OA
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases
2023-11-0913
OAAI
Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein (vol 24, pg 2051, 2022)
2023-11-011
OA
Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return

涉及异常肺静脉回流的临床外显子组测序功效和表型扩展

2023-09-075
PRE
Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation
2023-02-1518
OAAI
Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study
2023-01-019
OAAI
Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein

ANKRD11的错义变异通过编码蛋白的稳定性或转录活性受损而导致KBG综合征

2022-10-0116
OA
PURA-Related Developmental and Epileptic Encephalopathy

紫癜相关性发育性和癫痫性脑病

2021-12-0126
OAAI
PIGG variant pathogenicity assessment reveals characteristic features within 19 families
2021-10-018
OAAI
De novo missense variants in FBXO11 alter its protein expression and subcellular localization
2021-09-099
OAAI
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism
2021-06-0117
OAAI
Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability
2021-05-1119
OAAI
Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes

神经线粒体表型中ATAD3A变异体的功能解释

2021-04-1218
OAAI
Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

突变特异性病理生理机制定义与SATB1功能障碍相关的不同神经发育障碍

2021-02-0132
OAAI
KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants (vol 21, 10.1038/s41436-018-0259-2, 2019)
2020-11-010
OAAI
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome

聚集在解旋酶域之外的De novo SMARCA2变体导致一种新的可识别的综合征,具有智力障碍和眼睑病,不同于Nicolaides-Baraitser综合征

2020-11-0133
OAAI