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1.
Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disorders.
Genet Med
; 23(8): 1551-1568, 2021 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-33875846
2.
Phenotypical characterization of 13q deletion syndrome: Report of two cases.
Indian J Hum Genet
; 20(2): 203-5, 2014 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-25400354
3.
Fanconi-Bickel syndrome versus osteogenesis imperfeeta: An Iranian case with a novel mutation in glucose transporter 2 gene, and review of literature.
Indian J Hum Genet
; 19(1): 84-6, 2013 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-23901198
4.
Inborn Errors of Metabolism Associated With Autism Among Children: A Multicenter Study from Iran.
Indian Pediatr
; 60(3): 193-196, 2023 03 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-36604934
5.
Insights into the Value of Lyso-Gb1 as a Predictive Biomarker in Treatment-Naïve Patients with Gaucher Disease Type 1 in the LYSO-PROOF Study.
Diagnostics (Basel)
; 13(17)2023 08 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-37685353
6.
The benefits and challenges of family genetic testing in rare genetic diseases-lessons from Fabry disease.
Mol Genet Genomic Med
; 9(5): e1666, 2021 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-33835733
7.
A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome.
Eur J Hum Genet
; 29(2): 271-279, 2021 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-32901138
8.
Whole-Exome Sequencing Identifies Three Candidate Homozygous Variants in a Consanguineous Iranian Family with Autism Spectrum Disorder and Skeletal Problems.
Mol Syndromol
; 11(2): 62-72, 2020 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-32655337
9.
Investigation of Chromosomal Abnormalities and Microdeletion/ Microduplication(s) in Fifty Iranian Patients with Multiple Congenital Anomalies.
Cell J
; 21(3): 337-349, 2019 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-31210441
10.
Inborn Errors of Metabolism Associated With Autism Among Children: A Multicenter Study from Iran
Indian Pediatr
; 2023 Mar; 60(3): 193-196
Artículo
| IMSEAR | ID: sea-225393
11.
The genomic architecture of NLRP7 is Alu rich and predisposes to disease-associated large deletions.
Eur J Hum Genet
; 24(10): 1445-52, 2016 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-26956250
12.
Yunis-Varón syndrome: the first report of two Iranian cases.
Acta Med Iran
; 52(1): 85-7, 2014.
Artículo
en Inglés
| MEDLINE | ID: mdl-24658994
13.
Fraccaro syndrome: report of two Iranian cases: an infant and an adult in a family.
Acta Med Iran
; 51(12): 907-9, 2013.
Artículo
en Inglés
| MEDLINE | ID: mdl-24442548
14.
C86Y: as a destructive homozygous mutation deteriorating Pex7p function causing rhizomelic chondrodysplasia punctata type I.
Ann Clin Lab Sci
; 43(1): 76-80, 2013.
Artículo
en Inglés
| MEDLINE | ID: mdl-23462609
15.
Identification of Chromosome Abnormalities in Subtelomeric Regions Using Multiplex Ligation Dependent Probe Amplification (MLPA) Technique in 100 Iranian Patients With Idiopathic Mental Retardation.
Iran Red Crescent Med J
; 15(10): e8221, 2013 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-24693374
16.
The genomic architecture of NLRP7 is Alu rich and predisposes to disease-associated large deletions.
Eur J Hum Genet
; 24(10): 1516, 2016 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-27628567
17.
Phenotypical characterization of 13q deletion syndrome: Report of two cases.
Indian J Hum Genet
; 2014 Apr-Jun ; 20 (2): 203-205
Artículo
en Inglés
| IMSEAR | ID: sea-156663
18.
Fanconi-Bickel syndrome versus osteogenesis imperfeeta: An Iranian case with a novel mutation in glucose transporter 2 gene, and review of literature.
Indian J Hum Genet
; 2013 Jan; 19(1): 84-86
Artículo
en Inglés
| IMSEAR | ID: sea-147641
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