Detalhe da pesquisa
1.
De novo variants cause complex symptoms in HSP-ATL1 (SPG3A) and uncover genotype-phenotype correlations.
Hum Mol Genet
; 32(1): 93-103, 2023 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35925862
2.
Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals.
J Med Genet
; 61(6): 578-585, 2024 May 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38290825
3.
Strong evidence for genotype-phenotype correlations in Phelan-McDermid syndrome: results from the developmental synaptopathies consortium.
Hum Mol Genet
; 31(4): 625-637, 2022 02 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-34559195
4.
A randomized controlled trial of everolimus for neurocognitive symptoms in PTEN hamartoma tumor syndrome.
Hum Mol Genet
; 31(20): 3393-3404, 2022 10 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35594551
5.
SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia.
Brain
; 146(4): 1420-1435, 2023 04 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36718090
6.
Yield of genetic evaluation in non-syndromic pediatric moyamoya patients.
Childs Nerv Syst
; 40(3): 801-808, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37778001
7.
Next generation sequencing aids diagnosis and management in a case of encephalocraniocutaneous lipomatosis.
Pediatr Dermatol
; 41(1): 76-79, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-37486073
8.
Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder.
Hum Genet
; 142(7): 909-925, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37183190
9.
Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta.
Genet Med
; 25(8): 100856, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37092537
10.
L-ornithine L-aspartate in acute treatment of severe hepatic encephalopathy: A double-blind randomized controlled trial.
Hepatology
; 75(5): 1194-1203, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34822189
11.
POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum.
Clin Genet
; 104(2): 186-197, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37165752
12.
Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families.
Am J Med Genet A
; 191(7): 1900-1910, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37183572
13.
Updated consensus guidelines on the management of Phelan-McDermid syndrome.
Am J Med Genet A
; 191(8): 2015-2044, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37392087
14.
Arrhythmias including atrial fibrillation and congenital heart disease in Kleefstra syndrome: a possible epigenetic link.
Europace
; 26(1)2023 Dec 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38195854
15.
Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome.
Brain
; 145(10): 3383-3390, 2022 10 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-35737950
16.
A double blind randomized controlled trial to assess efficacy of nutritional therapy for prevention of recurrence of hepatic encephalopathy in patients with cirrhosis.
J Gastroenterol Hepatol
; 38(3): 433-440, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36574769
17.
Nutritional therapy for persistent cognitive impairment after resolution of overt hepatic encephalopathy in patients with cirrhosis: A double-blind randomized controlled trial.
J Gastroenterol Hepatol
; 38(11): 1917-1925, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37354045
18.
Factors Affecting the Successful Implementation of a Digital Intervention for Health Financing in a Low-Resource Setting at Scale: Semistructured Interview Study With Health Care Workers and Management Staff.
J Med Internet Res
; 25: e38818, 2023 01 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36607708
19.
A standard of care for individuals with PIK3CA-related disorders: An international expert consensus statement.
Clin Genet
; 101(1): 32-47, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34240408
20.
Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST.
Mov Disord
; 37(12): 2440-2446, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36103453