Detalhe da pesquisa
1.
Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis.
Genet Med
; 24(10): 2187-2193, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35962790
2.
De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome.
Am J Med Genet A
; 188(8): 2360-2366, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35751429
3.
Clinical presentation and evolution of Xia-Gibbs syndrome due to p.Gly375ArgfsTer3 variant in a patient from DR Congo (Central Africa).
Am J Med Genet A
; 185(3): 990-994, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33372375
4.
A novel homozygous SLC13A5 whole-gene deletion generated by Alu/Alu-mediated rearrangement in an Iraqi family with epileptic encephalopathy.
Am J Med Genet A
; 185(7): 1972-1980, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33797191
5.
Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome).
Am J Med Genet A
; 182(1): 38-52, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31782611
6.
Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis.
Hum Genet
; 137(9): 689-703, 2018 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-30046887
7.
Identification of a pathogenic PMP2 variant in a multi-generational family with CMT type 1: Clinical gene panels versus genome-wide approaches to molecular diagnosis.
Mol Genet Metab
; 125(3): 302-304, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30249361
8.
A biallelic ANTXR1 variant expands the anthrax toxin receptor associated phenotype to tooth agenesis.
Am J Med Genet A
; 176(4): 1015-1022, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29436111
9.
Syngnathia and obstructive apnea in a case of popliteal pterygium syndrome.
Eur J Pediatr
; 173(12): 1741-4, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25388409