Detalhe da pesquisa
1.
A variant in sperm-specific glycolytic enzyme enolase 4 (ENO4) causes human male infertility.
J Gene Med
; 26(1): e3583, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37640479
2.
Clinical and genetic investigation of 14 families with various forms of short stature syndromes.
Clin Genet
; 2024 May 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38774940
3.
Attenuation of CFA-induced chronic inflammation by a bicyclic monoterpene fenchone targeting inducible nitric oxide, prostaglandins, C-reactive protein and urea.
Inflammopharmacology
; 31(5): 2479-2491, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37689616
4.
A splice site variant in TCTN3 underlies an atypical form of orofaciodigital syndrome IV.
Ann Hum Genet
; 86(6): 291-296, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36039988
5.
Novel variants in the LRP4 underlying Cenani-Lenz Syndactyly syndrome.
J Hum Genet
; 67(5): 253-259, 2022 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-34857885
6.
A loss-of-function variant in DNA mismatch repair gene MLH3 underlies severe oligozoospermia.
J Hum Genet
; 66(7): 725-730, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-33517345
7.
A novel stop-gain mutation in ARMC2 is associated with multiple morphological abnormalities of the sperm flagella.
Reprod Biomed Online
; 43(5): 913-919, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-34493464
8.
Pneumorrhachis and pneumothorax after epidural analgesia: A case report and review.
Qatar Med J
; 2021(1): 01, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33643863
9.
Eclampsia and posterior reversible encephalopathy syndrome (PRES): A retrospective review of risk factors and outcomes.
Qatar Med J
; 2021(1): 4, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34604007
10.
Further evidence of involvement of TMEM132E in autosomal recessive nonsyndromic hearing impairment.
J Hum Genet
; 65(2): 187-192, 2020 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-31656313
11.
A homozygous nonsense variant in DYM underlies Dyggve-Melchior-Clausen syndrome associated with ectodermal features.
Mol Biol Rep
; 47(9): 7083-7088, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32886330
12.
Optimal dose and duration of enteral erythromycin as a prokinetic: A surgical intensive care experience.
Qatar Med J
; 2020(3): 36, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33447536
13.
Novel missense and 3'-UTR splice site variants in LHFPL5 cause autosomal recessive nonsyndromic hearing impairment.
J Hum Genet
; 63(11): 1099-1107, 2018 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-30177809
14.
Correction: Further evidence of involvement of TMEM132E in autosomal recessive nonsyndromic hearing impairment.
J Hum Genet
; 67(3): 181, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-34526652
15.
SPM4GAC: SPM based approach for genome analysis and classification of macromolecules.
Int J Biol Macromol
; 266(Pt 2): 130984, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38513910
16.
A prospective observational study of estimating drug related problems and clinical outcomes in subtypes of stroke patients.
PLoS One
; 19(1): e0295208, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38165875
17.
Linalool: Monoterpene alcohol effectiveness in chronic synovitis through lowering Interleukin-17, spleen and thymus indices.
Int Immunopharmacol
; 121: 110517, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37348232
18.
Laparoscopic Major Vascular Injuries Report of Two Cases and Review.
Int Med Case Rep J
; 16: 7-11, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36636330
19.
Asymptomatic COVID-19 presenting with features of mixed pattern acute liver injury in a young healthy female, a case report.
J Infect Public Health
; 16(9): 1481-1484, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37349241
20.
LRRC23 truncation impairs radial spoke 3 head assembly and sperm motility underlying male infertility.
bioRxiv
; 2023 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36865175