Detalhe da pesquisa
1.
Expanding the phenotype of PIGP deficiency to multiple congenital anomalies-hypotonia-seizures syndrome.
Clin Genet
; 104(2): 245-250, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37125481
2.
Mitochondrial developmental encephalopathy with bilateral optic neuropathy related to homozygous variants in IMMT gene.
Clin Genet
; 101(2): 233-241, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34842280
3.
Further characterization of Borjeson-Forssman-Lehmann syndrome in females due to de novo variants in PHF6.
Clin Genet
; 102(3): 182-190, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35662002
4.
Prenatal diagnosis of a female fetus with ring chromosome 9, 46,XX,r(9)(p24q34), and a de novo interstitial 9p deletion.
Cytogenet Genome Res
; 144(4): 275-9, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25722017
5.
Mutations in PMM2 gene in four unrelated Spanish families with polycystic kidney disease and hyperinsulinemic hypoglycemia.
J Pediatr Endocrinol Metab
; 33(10): 1283-1288, 2020 Aug 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-32841164
6.
Autosomal recessive woolly hair and hypotrichosis in two Caucasian dizygotic twins. Description of a novel biallelic mutation in the LPAR6 gene.
Int J Dermatol
; 60(2): e68-e70, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-33017051
7.
Apparent Radiological Improvement in an Infant With Labrune Syndrome Treated With Bevacizumab.
Pediatr Neurol
; 112: 53-55, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32911264