Detalhe da pesquisa
1.
Long-term outcomes in ALG13-Congenital Disorder of Glycosylation.
Am J Med Genet A
; 191(6): 1626-1631, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36930724
2.
MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects.
Hum Genet
; 141(1): 65-80, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34748075
3.
Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder.
Clin Genet
; 102(2): 98-109, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35616059
4.
46,XY DSD and limb abnormalities in a female with a de novo LHX9 missense mutation.
Am J Med Genet A
; 182(12): 2887-2890, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32949097
5.
Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions.
J Inherit Metab Dis
; 43(6): 1333-1348, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32681751
6.
Beyond circles and squares: A commentary on updating pedigree nomenclature to better represent patient diversity.
J Genet Couns
; 29(3): 435-439, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32103563
7.
Wolf-Hirschhorn Syndrome with Hyperparathyroidism: A Case Report and a Narrative Review of the Literature.
J Pediatr Genet
; 12(4): 312-317, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-38162156
8.
Tetrasomy 15q26: a distinct syndrome or Shprintzen-Goldberg syndrome phenocopy?
Genet Med
; 14(9): 811-8, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22653535
9.
Pulmonary complications of genetic disorders.
Paediatr Respir Rev
; 13(1): 2-9, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22208787
10.
A Case of Growth Hormone Use in Dyggve-Melchior-Clausen Syndrome.
Case Rep Endocrinol
; 2022: 8542281, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35340400
11.
A trauma-informed approach to the pediatric COVID-19 response.
Curr Probl Pediatr Adolesc Health Care
; 51(2): 100970, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33678529
12.
Pulmonary Manifestations of Genetic Disorders in Children.
Pediatr Clin North Am
; 68(1): 1-24, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33228926
13.
Natural Progression and Symptomatic Management of Tarsal-Carpal Coalition Syndrome: A Case Report.
JBJS Case Connect
; 11(4)2021 10 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-34714811
14.
Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms.
Mol Genet Genomic Med
; 9(10): e1809, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34519438
15.
Unraveling Gene Interactions in Patients with Neurofibromatosis Type 1.
J Pediatr
; 167(3): 511-3, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26148658
16.
Primary care pediatricians' satisfaction with subspecialty care, perceived supply, and barriers to care.
J Pediatr
; 156(6): 1011-1015.e1, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20227727
17.
Adverse Childhood Experiences: A Case-Based Workshop Introducing Medical Students to Trauma-Informed Care.
MedEdPORTAL
; 15: 10803, 2019 02 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30931382
18.
Carrier screening in individuals of Ashkenazi Jewish descent.
Genet Med
; 10(1): 54-6, 2008 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-18197057
19.
A Case of Brown-Vialetto-Van Laere Syndrome Due To a Novel Mutation in SLC52A3 Gene: Clinical Course and Response to Riboflavin.
Child Neurol Open
; 4: 2329048X17725610, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28856173
20.
Muscle infarction in a 13 year-old female with type 1 diabetes mellitus of short duration.
J Pediatr Endocrinol Metab
; 19(8): 1039-43, 2006 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-16995590