Detalhe da pesquisa
1.
Further description of two individuals with de novo p.(Glu127Lys) missense variant in the ASCL1 gene.
Clin Genet
; 105(5): 555-560, 2024 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38287449
2.
Long-term follow-up of 64 children with classical infantile-onset Pompe disease since 2004: A French real-life observational study.
Eur J Neurol
; 30(9): 2828-2837, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37235686
3.
Hepatitis-associated Aplastic Anemia.
J Pediatr Gastroenterol Nutr
; 75(5): 553-555, 2022 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36070526
4.
Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility.
Am J Hum Genet
; 102(3): 364-374, 2018 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29429573
5.
Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability.
J Med Genet
; 57(7): 466-474, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32277047
6.
Carriage of a Single Strain of Nontoxigenic Corynebacterium diphtheriae bv. Belfanti (Corynebacterium belfantii) in Four Patients with Cystic Fibrosis.
J Clin Microbiol
; 57(5)2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30814269
7.
Hearing impairment as an early sign of alpha-mannosidosis in children with a mild phenotype: Report of seven new cases.
Am J Med Genet A
; 179(9): 1756-1763, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31241255
8.
Toward the Standardization of Mycological Examination of Sputum Samples in Cystic Fibrosis: Results from a French Multicenter Prospective Study.
Mycopathologia
; 183(1): 101-117, 2018 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-28748285
9.
Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life.
Am J Hum Genet
; 95(1): 113-20, 2014 Jul 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-24995870
10.
Application of whole-exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disability.
Am J Med Genet A
; 173(1): 62-71, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-27615324
11.
Randomised controlled trial demonstrates that fermented infant formula with short-chain galacto-oligosaccharides and long-chain fructo-oligosaccharides reduces the incidence of infantile colic.
Acta Paediatr
; 106(7): 1150-1158, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28328065
12.
Loss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signaling.
PLoS Genet
; 10(5): e1004340, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24784881
13.
[Epidemiology of strokes in pediatry]. / Épidémiologie des accidents vasculaires cérébraux en pédiatrie.
Soins Pediatr Pueric
; 38(295): 12-13, 2017.
Artigo
em Francês
| MEDLINE | ID: mdl-28325378
14.
Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency.
Hum Mutat
; 37(8): 755-64, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27094817
15.
PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy.
Am J Hum Genet
; 93(1): 141-9, 2013 Jul 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-23810378
16.
A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndrome.
Am J Med Genet A
; 170(8): 2103-10, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27256868
17.
Partly Fermented Infant Formulae With Specific Oligosaccharides Support Adequate Infant Growth and Are Well-Tolerated.
J Pediatr Gastroenterol Nutr
; 63(4): e43-53, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27472478
18.
In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome.
Am J Hum Genet
; 91(5): 950-7, 2012 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-23103230
19.
3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder.
J Med Genet
; 51(1): 21-7, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24133203
20.
Angelman syndrome: a case series assessing neurological issues in adulthood.
Eur Neurol
; 73(1-2): 119-25, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25472600