Detalhe da pesquisa
1.
Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies.
Am J Hum Genet;
102(4): 685-695, 2018 04 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29576219
2.
A novel phenotype associated with cutis laxa, abnormal fat distribution, cardiomyopathy and cataract.
Am J Med Genet A;
164A(4): 1049-55, 2014 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24459010
3.
[Best possible start for child and parent]. / Kansrijke start voor kind en ouder.
Ned Tijdschr Geneeskd;
1672023 03 16.
Artigo
em Holandês
| MEDLINE
| ID: mdl-36928420
4.
Comparison of the CollaboRATE and SDM-Q-9 questionnaires to appreciate the patient-reported level of shared decision-making.
Patient Educ Couns;
105(7): 2475-2479, 2022 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35331573
5.
Duplication at Xq28 involving IKBKG is associated with progressive macrocephaly, recurrent infections, ectodermal dysplasia, benign tumors, and neuropathy.
Clin Dysmorphol;
23(3): 77-82, 2014 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24721901
6.
Cutis laxa, fat pads and retinopathy due to ALDH18A1 mutation and review of the literature.
Eur J Paediatr Neurol;
18(4): 511-5, 2014 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24767728