Detalhe da pesquisa
1.
Rare diseases of ectoderm: Translating discovery to therapy.
Am J Med Genet A
; 191(3): 902-909, 2023 03.
Artigo
Inglês
| MEDLINE | ID: mdl-36534506
2.
Growth failure in focal dermal hypoplasia.
Am J Med Genet A
; 179(4): 628-633, 2019 04.
Artigo
Inglês
| MEDLINE | ID: mdl-30693654
3.
Ectodermal dysplasias: Classification and organization by phenotype, genotype and molecular pathway.
Am J Med Genet A
; 179(3): 442-447, 2019 03.
Artigo
Inglês
| MEDLINE | ID: mdl-30703280
4.
International research symposium on Goltz syndrome.
Am J Med Genet C Semin Med Genet
; 172C(1): 3-6, 2016 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-26834080
5.
Growth, nutritional, and gastrointestinal aspects of focal dermal hypoplasia (Goltz-Gorlin syndrome).
Am J Med Genet C Semin Med Genet
; 172C(1): 29-33, 2016 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-27001925
6.
X-linked hypohidrotic ectodermal dysplasia (XLHED): clinical and diagnostic insights from an international patient registry.
Am J Med Genet A
; 164A(10): 2437-42, 2014 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-24664614
7.
Modeling AEC-New approaches to study rare genetic disorders.
Am J Med Genet A
; 164A(10): 2443-54, 2014 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-24665072
8.
Second International Conference on a classification of ectodermal dysplasias: development of a multiaxis model.
Am J Med Genet A
; 164A(10): 2482-9, 2014 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-24700551
9.
Characterization of X-linked hypohidrotic ectodermal dysplasia (XL-HED) hair and sweat gland phenotypes using phototrichogram analysis and live confocal imaging.
Am J Med Genet A
; 161A(7): 1585-93, 2013 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-23687000
10.
Prevalence of atopic disorders and immunodeficiency in patients with ectodermal dysplasia syndromes.
Ann Allergy Asthma Immunol
; 108(6): 435-8, 2012 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-22626597
11.
Psychoeducational characteristics of children with hypohidrotic ectodermal dysplasia.
ScientificWorldJournal
; 2012: 532371, 2012.
Artigo
Inglês
| MEDLINE | ID: mdl-22536143
12.
Molecular Pathway-Based Classification of Ectodermal Dysplasias: First Five-Yearly Update.
Genes (Basel)
; 13(12)2022 12 10.
Artigo
Inglês
| MEDLINE | ID: mdl-36553593
13.
In memoriam--A salute to Dr. Carlos F. Salinas and Dr. Robert Goltz.
Am J Med Genet C Semin Med Genet
; 172C(1): 7-8, 2016 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-26867153
14.
2008 International Conference on Ectodermal Dysplasias Classification: conference report.
Am J Med Genet A
; 149A(9): 1958-69, 2009 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-19681152
15.
International Research Symposium on Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate (AEC) syndrome.
Am J Med Genet A
; 149A(9): 1885-93, 2009 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-19353643
16.
Skin erosions and wound healing in ankyloblepharon-ectodermal defect-cleft lip and/or palate.
Arch Dermatol
; 141(12): 1591-4, 2005 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-16365264
17.
The Woodard and Sowell (2001) study adds to the body of nursing knowledge that supports spirituality as a concept that I believe is relevant to nursing practice.
Clin Nurs Res
; 11(2): 126-9, 2002 May.
Artigo
Inglês
| MEDLINE | ID: mdl-11991168
18.
Perceptions of outcomes of implant therapy in patients with ectodermal dysplasia syndromes.
Int J Prosthodont
; 21(3): 195-200, 2008.
Artigo
Inglês
| MEDLINE | ID: mdl-18548955