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1.
MRI in LARS1 deficiency-Spectrum, patterns, and correlation with acute neurological deterioration.
J Inherit Metab Dis
; 2024 Jul 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-38951950
2.
Proposed use of entrustable professional activities (EPAs) in genetic counseling for clinical training and assessment.
J Genet Couns
; 33(1): 164-167, 2024 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-38356180
3.
Family health beliefs and cascade genetic testing in Asian families with hereditary cancer risk: "Okay, now what?"
J Genet Couns
; 2024 Mar 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-38504135
4.
Frequency of epistaxis and telangiectasia in patients with hereditary hemorrhagic telangiectasia (HHT) in comparison with the general population: Curaçao diagnostic criteria revisited.
Genet Med
; 25(8): 100865, 2023 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-37125633
5.
De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features.
Am J Hum Genet
; 103(1): 154-162, 2018 07 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-29961569
6.
MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance.
Am J Hum Genet
; 103(6): 1009-1021, 2018 12 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-30471716
7.
Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.
BMC Med
; 19(1): 199, 2021 08 18.
Artículo
en Inglés
| MEDLINE | ID: mdl-34404389
8.
Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome.
Hum Mutat
; 41(1): 150-168, 2020 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-31448840
9.
Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1.
Genet Med
; 22(11): 1863-1873, 2020 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-32699352
10.
Use of genetic risks in pediatric organ transplantation listing decisions: A national survey.
Pediatr Transplant
; 23(4): e13402, 2019 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-31012250
11.
Understanding variants of uncertain significance in the era of multigene panels: Through the eyes of the patient.
J Genet Couns
; 28(4): 878-886, 2019 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-31050105
12.
Developing a genomics rotation: Practical training around variant interpretation for genetic counseling students.
J Genet Couns
; 28(2): 466-476, 2019 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-30706981
13.
Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling.
Circulation
; 136(11): 1037-1048, 2017 Sep 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-28687708
14.
Autosomal recessive Stickler syndrome resulting from a COL9A3 mutation.
Am J Med Genet A
; 176(12): 2887-2891, 2018 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-30450842
15.
FOXP1-related intellectual disability syndrome: a recognisable entity.
J Med Genet
; 54(9): 613-623, 2017 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-28735298
16.
Evolving Decisions: Perspectives of Active and Athletic Individuals with Inherited Heart Disease Who Exercise Against Recommendations.
J Genet Couns
; 2018 Sep 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-30220053
17.
Correction to: Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.
BMC Med
; 19(1): 288, 2021 Nov 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-34732190
18.
Clinical delineation of the PACS1-related syndrome--Report on 19 patients.
Am J Med Genet A
; 170(3): 670-5, 2016 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-26842493
19.
Impact of Huntington Disease Gene-Positive Status on Pre-Symptomatic Young Adults and Recommendations for Genetic Counselors.
J Genet Couns
; 25(6): 1188-1197, 2016 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-27103420
20.
Contractile protein expression is upregulated by reactive oxygen species in aorta of Goto-Kakizaki rat.
Am J Physiol Heart Circ Physiol
; 306(2): H214-24, 2014 Jan 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-24213617