Detalhe da pesquisa
1.
Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defects.
Brain
; 146(4): 1373-1387, 2023 04 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36200388
2.
Clinical, biochemical and molecular characterization of 12 patients with pyruvate carboxylase deficiency treated with triheptanoin.
Mol Genet Metab
; 139(2): 107605, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37207470
3.
Biochemical analysis of novel NAA10 variants suggests distinct pathogenic mechanisms involving impaired protein N-terminal acetylation.
Hum Genet
; 141(8): 1355-1369, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-35039925
4.
Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy.
Ann Neurol
; 90(2): 274-284, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34185323
5.
Highlighting the Dystonic Phenotype Related to GNAO1.
Mov Disord
; 37(7): 1547-1554, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35722775
6.
A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.
Am J Hum Genet
; 103(4): 553-567, 2018 10 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30290151
7.
The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction.
Genet Med
; 23(2): 352-362, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33106617
8.
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.
Brain
; 143(1): 55-68, 2020 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31834374
9.
Linked-read genome sequencing identifies biallelic pathogenic variants in DONSON as a novel cause of Meier-Gorlin syndrome.
J Med Genet
; 57(3): 195-202, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31784481
10.
Training the next generation of genomic medicine providers: trends in medical education and national assessment.
Genet Med
; 22(10): 1718-1722, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32555416
11.
Defining the clinical phenotype of Saul-Wilson syndrome.
Genet Med
; 22(5): 857-866, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31949312
12.
Veno-Venous Extracorporeal Membrane Oxygenation for Continuous Renal Replacement in a Neonate with Propionic Acidemia.
J Extra Corpor Technol
; 49(1): 64-66, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28298669
13.
COMMENTARY-The Saul-Wilson syndrome from its early days until now.
Am J Med Genet A
; 179(2): 159-160, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30548960
14.
Individual-based chaos: extensions of the discrete logistic model.
J Theor Biol
; 339: 84-92, 2013 Dec 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-24036205
15.
Ophthalmic Diagnosis and Novel Management of Infantile Refsum Disease with Combination Docosahexaenoic Acid and Cholic Acid.
Case Rep Ophthalmol Med
; 2021: 1345937, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34664020
16.
BDV Syndrome: An Emerging Syndrome With Profound Obesity and Neurodevelopmental Delay Resembling Prader-Willi Syndrome.
J Clin Endocrinol Metab
; 106(12): 3413-3427, 2021 11 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-34383079
17.
Desensitization of an adult patient with Pompe disease and a history of anaphylaxis to alglucosidase alfa.
Mol Genet Metab
; 98(3): 319-21, 2009 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-19640753
18.
Ecosystem engineering in space and time.
Ecol Lett
; 10(2): 153-64, 2007 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-17257103
19.
Animal dispersal dynamics promoting dioecy over hermaphroditism.
Am Nat
; 170(3): 485-91, 2007 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-17879199
20.
The evolution of parasite manipulation of host dispersal.
Proc Biol Sci
; 273(1590): 1063-71, 2006 May 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-16600882