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1.
Genome sequencing identifies a large non-coding region deletion of SNX10 causing autosomal recessive osteopetrosis.
J Hum Genet
; 68(4): 287-290, 2023 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-36526684
2.
A homozygous hypomorphic BNIP1 variant causes an increase in autophagosomes and reduced autophagic flux and results in a spondylo-epiphyseal dysplasia.
Hum Mutat
; 43(5): 625-642, 2022 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-35266227
3.
Biallelic loss-of-function variants in EXOC6B are associated with impaired primary ciliogenesis and cause spondylo-epi-metaphyseal dysplasia with joint laxity type 3.
Hum Mutat
; 43(12): 2116-2129, 2022 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-36150098
4.
Biallelic deep intronic variant c.5457+81T>A in TRIP11 causes loss of function and results in achondrogenesis 1A.
Hum Mutat
; 42(8): 1005-1014, 2021 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-34057271
5.
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians.
Hum Mutat
; 42(4): e15-e61, 2021 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-33502066
6.
Clinical and genetic spectrum of 104 Indian families with central nervous system white matter abnormalities.
Clin Genet
; 100(5): 542-550, 2021 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-34302356
7.
An emerging ribosomopathy affecting the skeleton due to biallelic variations in NEPRO.
Am J Med Genet A
; 179(9): 1709-1717, 2019 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-31250547
8.
Multilocus disease-causing genomic variations for Mendelian disorders: role of systematic phenotyping and implications on genetic counselling.
Eur J Hum Genet
; 29(12): 1774-1780, 2021 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-34276053
9.
Clinically relevant variants in a large cohort of Indian patients with Marfan syndrome and related disorders identified by next-generation sequencing.
Sci Rep
; 11(1): 764, 2021 01 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-33436942
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