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.
A novel variant in AFF3 underlying isolated syndactyly.
Clin Genet
; 103(3): 341-345, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36273379
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.
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
8.
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
9.
Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly.
Hum Genet
; 138(6): 593-600, 2019 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-30982135
10.
Identification of CACNA1D variants associated with sinoatrial node dysfunction and deafness in additional Pakistani families reveals a clinical significance.
J Hum Genet
; 64(2): 153-160, 2019 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-30498240
11.
Sequence variants in DLX5, HOXD13 and 445 kb-microduplication surrounding BTRC cause split-hand/foot malformation in three different families.
Clin Genet
; 105(1): 109-111, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37776184
12.
A variant in LMX1A causes autosomal recessive severe-to-profound hearing impairment.
Hum Genet
; 137(6-7): 471-478, 2018 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-29971487
13.
Molecular Ellipticity of Circulating Albumin-Bilirubin Complex Associates With Mortality in Patients With Severe Alcoholic Hepatitis.
Clin Gastroenterol Hepatol
; 16(8): 1322-1332.e4, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29155355
14.
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
15.
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
16.
In vitro anticancer activity of extracts of Mentha Spp. against human cancer cells.
Indian J Biochem Biophys
; 51(5): 416-9, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25630112
17.
In vitro cytotoxic activity of leaves extracts of Holarrhena antidysenterica against some human cancer cell lines.
Indian J Biochem Biophys
; 51(1): 46-51, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24791416
18.
Sequence variants in GDF5 and TRPS1 underlie brachydactyly and tricho-rhino-phalangeal syndrome type III.
Pediatr Int
; 60(3): 304-306, 2018 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-29436063
19.
End to end vision transformer architecture for brain stroke assessment based on multi-slice classification and localization using computed tomography.
Comput Med Imaging Graph
; 109: 102294, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37713999
20.
Identification of GLI1 and KIAA0825 Variants in Two Families with Postaxial Polydactyly.
Genes (Basel)
; 14(4)2023 04 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37107627