Detalhe da pesquisa
1.
Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails.
J Hum Genet
; 62(4): 465-471, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28003643
2.
Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica.
Int J Mol Sci
; 18(3)2017 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28294978
3.
Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-Danlos-syndrome-like connective tissue disorder.
Am J Hum Genet
; 92(6): 935-45, 2013 Jun 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-23664118
4.
Mutations in the human UBR1 gene and the associated phenotypic spectrum.
Hum Mutat
; 35(5): 521-31, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24599544
5.
Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect.
Am J Hum Genet
; 88(2): 162-72, 2011 Feb 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-21310273
6.
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
NPJ Genom Med
; 9(1): 12, 2024 Feb 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38374194
7.
Defect in proline synthesis: pyrroline-5-carboxylate reductase 1 deficiency leads to a complex clinical phenotype with collagen and elastin abnormalities.
J Inherit Metab Dis
; 34(3): 731-9, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21487760
8.
Skull defects, alopecia, hypertelorism, and notched alae nasi caused by homozygous ALX4 gene mutation.
Am J Med Genet A
; 164A(5): 1322-7, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24668755
9.
Clinical variability in acro-cardio-facial-syndrome.
Am J Med Genet A
; 146A(15): 1977-9, 2008 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-18627040
10.
Johanson-Blizzard syndrome caused by identical UBR1 mutations in two unrelated girls, one with a cardiomyopathy.
Am J Med Genet A
; 146A(23): 3058-61, 2008 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-19006206
11.
Novel mutations and a severe neurological phenotype in Sjögren-Larsson syndrome patients from Iran.
Eur J Med Genet
; 61(3): 139-144, 2018 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-29183715
12.
Brief Report: Peripheral Osteolysis in Adults Linked to ASAH1 (Acid Ceramidase) Mutations: A New Presentation of Farber's Disease.
Arthritis Rheumatol
; 68(9): 2323-7, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-26945816
13.
Eight novel mutations in MLC1 from 18 Iranian patients with megalencephalic leukoencephalopathy with subcortical cysts.
Eur J Med Genet
; 58(2): 71-4, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25497041
14.
Investigation of microdeletions in syndromic intellectual disability by MLPA in Iranian population.
Arch Iran Med
; 17(7): 471-4, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24979557
15.
Retinitis pigmentosa, cutis laxa, and pseudoxanthoma elasticum-like skin manifestations associated with GGCX mutations.
J Invest Dermatol
; 134(9): 2331-2338, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24739904
16.
Skull defects, alopecia and distinctive facies: a new syndrome?
Clin Dysmorphol
; 17(3): 203-205, 2008 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-18541970
17.
Ullrich Congenital Muscular Dystrophy (UCMD): Clinical and Genetic Correlations.
Iran J Child Neurol
; 7(3): 15-22, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24665301
18.
Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations.
J Neurol
; 259(5): 838-50, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21975507
19.
Ehlers-Danlos Syndrome Type VI in a 17-Year-Old Iranian Boy with Severe Muscular Weakness - A Diagnostic Challenge?
Iran J Pediatr
; 20(3): 358-62, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23056730