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1.
Novel neonatal presentation of megalencephaly-polymicrogyria-pigmentary mosaicism syndrome (MPPM) related to MTOR mutation: Report of a case.
Pediatr Dermatol
; 38(2): 536-537, 2021 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-33325571
2.
Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature.
Blood
; 119(5): 1283-91, 2012 Feb 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-22147895
3.
Cost Effectiveness of Genomic Population Health Screening in Adults: A Review of Modeling Studies and Future Directions.
J Appl Lab Med
; 9(1): 92-103, 2024 01 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-38167759
4.
Growth in perceived clinical genetics competency among primary care providers participating in genomic population health screening.
J Community Genet
; 15(1): 33-37, 2024 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-37792155
5.
Real-World Results from Combined Screening for Monogenic Genomic Health Risks and Reproductive Risks in 300 Adults.
J Pers Med
; 12(12)2022 Nov 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-36556183
6.
Primary Care Implementation of Genomic Population Health Screening Using a Large Gene Sequencing Panel.
Front Genet
; 13: 867334, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-35547253
7.
Modernizing family health history: achievable strategies to reduce implementation gaps.
J Community Genet
; 12(3): 493-496, 2021 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-34028705
8.
Identifying candidate genes for 2p15p16.1 microdeletion syndrome using clinical, genomic, and functional analysis.
JCI Insight
; 1(3): e85461, 2016 03 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-27699255
9.
Highly penetrant alterations of a critical region including BDNF in human psychopathology and obesity.
Arch Gen Psychiatry
; 69(12): 1238-46, 2012 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-23044507
10.
IPEX and FOXP3: clinical and research perspectives.
J Autoimmun
; 25 Suppl: 56-62, 2005.
Artículo
en Inglés
| MEDLINE | ID: mdl-16243487
11.
Meiotic exchange event within the stalk region of an inverted chromosome 22 results in a recombinant chromosome with duplication of the distal long arm.
Am J Med Genet A
; 138(4): 355-60, 2005 Nov 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-16177985
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