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1.
Compound heterozygous variants in SHQ1 are associated with a spectrum of neurological features, including early-onset dystonia.
Hum Mol Genet
; 31(4): 614-624, 2022 02 21.
Article
in English
| MEDLINE | ID: mdl-34542157
2.
Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.
Am J Med Genet A
; 185(1): 119-133, 2021 01.
Article
in English
| MEDLINE | ID: mdl-33098347
3.
SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation.
Am J Hum Genet
; 97(6): 894-903, 2015 Dec 03.
Article
in English
| MEDLINE | ID: mdl-26637979
4.
Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8.
Am J Hum Genet
; 97(6): 886-93, 2015 Dec 03.
Article
in English
| MEDLINE | ID: mdl-26637978
5.
Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) gene.
Hum Mutat
; 38(5): 511-516, 2017 05.
Article
in English
| MEDLINE | ID: mdl-28185376
6.
Increasing incidence of optic nerve hypoplasia/septo-optic dysplasia spectrum: Geographic clustering in Northern Canada.
Paediatr Child Health
; 22(8): 445-453, 2017 Nov.
Article
in English
| MEDLINE | ID: mdl-29479262
7.
Impact of discontinuing 5 years of enzyme replacement treatment in a cohort of 6 adults with hypophosphatasia: A case series.
Bone Rep
; 17: 101617, 2022 Dec.
Article
in English
| MEDLINE | ID: mdl-36097602
8.
Heterozygous intragenic deletions of FREM1 are not associated with trigonocephaly.
Clin Dysmorphol
; 30(2): 83-88, 2021 Apr 01.
Article
in English
| MEDLINE | ID: mdl-33038106
9.
A novel missense heterozygous mutation in MAP3K1 gene causes 46, XY disorder of sex development: case report and literature review.
Mol Genet Genomic Med
; 8(11): e1514, 2020 11.
Article
in English
| MEDLINE | ID: mdl-32986312
10.
Understanding the impact of 1q21.1 copy number variant.
Orphanet J Rare Dis
; 6: 54, 2011 Aug 08.
Article
in English
| MEDLINE | ID: mdl-21824431
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