Detalhe da pesquisa
1.
Unraveling a history of overlap: A phenotypic comparison of RBCK1-related disease and glycogen storage disease type IV.
Am J Med Genet A
; : e63574, 2024 Mar 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38436530
2.
Developmental epileptic encephalopathy in DLG4-related synaptopathy.
Epilepsia
; 65(4): 1029-1045, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38135915
3.
Unmasking the challenges of Kabuki syndrome in adulthood: A case series.
Am J Med Genet C Semin Med Genet
; 193(2): 128-138, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37296540
4.
An ACVR1R375P pathogenic variant in two families with mild fibrodysplasia ossificans progressiva.
Am J Med Genet A
; 188(3): 806-817, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34854557
5.
Mitral valve prolapse and aortic root dilation in adults with hypermobile Ehlers-Danlos syndrome and related disorders.
Am J Med Genet A
; 176(9): 1838-1844, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30063091
6.
What is new with 22q? An update from the 22q and You Center at the Children's Hospital of Philadelphia.
Am J Med Genet A
; 176(10): 2058-2069, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30380191
7.
The Impact of Whole-Exome Sequencing on Kidney Disease Ontology: The Tip of the Iceberg?
Am J Kidney Dis
; 74(2): 281-283, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31027884
8.
A disease severity scoring system for children with type 1 Gaucher disease.
Eur J Pediatr
; 172(1): 39-43, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22992811
9.
A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations.
medRxiv
; 2023 Aug 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37609227
10.
Consensus recommendations for the treatment and management of patients with Fabry disease on migalastat: a modified Delphi study.
Front Med (Lausanne)
; 10: 1220637, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37727761
11.
Measurement of tissue acyl-CoAs using flow-injection tandem mass spectrometry: acyl-CoA profiles in short-chain fatty acid oxidation defects.
Mol Genet Metab
; 107(4): 679-83, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23117082
12.
Ablepharon-Macrostomia syndrome--extension of the phenotype.
Am J Med Genet A
; 155A(12): 3060-2, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22002929
13.
Heterozygous variant in WNT1 gene in two brothers with early onset osteoporosis.
Bone Rep
; 15: 101118, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34458510
14.
Multisystem Inflammation and Organ Dysfunction After BNT162b2 Messenger RNA Coronavirus Disease 2019 Vaccination.
Crit Care Explor
; 3(11): e0578, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-34765984
15.
Pearls & Oy-sters: Case Report of a Patient With Adult-Onset Thymidine Kinase 2 Gene Deficiency.
Neurology
; 101(16): 723-727, 2023 10 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-37527940
16.
Primary lymphedema and other lymphatic anomalies are associated with 22q11.2 deletion syndrome.
Eur J Med Genet
; 61(7): 411-415, 2018 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-29447908
17.
WNT10A mutation causes ectodermal dysplasia by impairing progenitor cell proliferation and KLF4-mediated differentiation.
Nat Commun
; 8: 15397, 2017 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28589954