Detalhe da pesquisa
1.
TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions.
Am J Hum Genet
; 109(12): 2270-2282, 2022 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36368327
2.
Variability in Swallowed Topical Corticosteroid Practice Patterns for Treatment of Pediatric Eosinophilic Esophagitis.
J Pediatr Gastroenterol Nutr
; 77(2): 256-259, 2023 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37204839
3.
Genetic counseling for congenital heart disease - Practice resource of the National Society of Genetic Counselors.
J Genet Couns
; 31(1): 9-33, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34510635
4.
DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency.
Am J Hum Genet
; 103(6): 1038-1044, 2018 12 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30503519
5.
Treatment for eosinophilic esophagitis.
Curr Opin Gastroenterol
; 36(6): 485-490, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33009017
6.
Update on Emerging Pharmacologic Therapies for Patients With Eosinophilic Esophagitis.
Gastroenterol Hepatol (N Y)
; 18(4): 207-212, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-35505944
7.
Real World Experience With Dupilumab in Eosinophilic Esophagitis in Children and Young Adults at a Tertiary Care Pediatric Medical Center.
JPGN Rep
; 3(2): e180, 2022 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-37168913
8.
Robust differentiation of human enteroendocrine cells from intestinal stem cells.
Nat Commun
; 13(1): 261, 2022 01 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35017529
9.
Does Supply Equal Demand? The Workforce of Direct Patient Care Genetic Counselors in Wisconsin.
WMJ
; 119(3): 158-164, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-33091282
10.
Three year experience of a clinical cardiovascular genetics program for infants with congenital heart disease.
Congenit Heart Dis
; 14(5): 832-837, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-31222963
11.
Piloting a multidisciplinary group education session to support caregivers of children with food protein-induced enterocolitis syndrome (FPIES).
J Allergy Clin Immunol Pract
; 11(10): 3260-3262.e1, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37406809
12.
Adolescents' Perceptions of Transition Importance, Readiness, and Likelihood of Future Success: The Role of Anticipatory Guidance.
Clin Pediatr (Phila)
; 55(11): 1020-5, 2016 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-27582491
13.
Oral viscous mometasone is an effective treatment for eosinophilic esophagitis.
J Allergy Clin Immunol Pract
; 8(3): 1107-1109, 2020 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-31521829