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1.
Germline PTCH1: c.361_362insAlu alteration identified by comprehensive exome and RNA sequencing in a patient with Gorlin syndrome.
Am J Med Genet A
; : e63788, 2024 Jun 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-38864234
2.
Detection of a novel gross deletion in the UNC13D gene ends the diagnostic odyssey for a family with familial hemophagocytic lymphohistiocytosis 3.
BMC Pediatr
; 24(1): 34, 2024 01 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-38212754
3.
Genetic counseling for the dystrophinopathies-Practice resource of the National Society of Genetic Counselors.
J Genet Couns
; 2024 Apr 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-38682751
4.
Understanding and interpretation of a variant of uncertain significance (VUS) genetic test result by pediatric providers who do not specialize in genetics.
J Genet Couns
; 30(6): 1559-1569, 2021 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-33969574
5.
Reduction of Health Care Costs and Improved Appropriateness of Incoming Test Orders: the Impact of Genetic Counselor Review in an Academic Genetic Testing Laboratory.
J Genet Couns
; 27(5): 1067-1073, 2018 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-29427196
6.
Identification of Biallelic dystrophin gene variants during maternal carrier testing for Becker muscular dystrophy and review of the DMD exon 49-51 deletion phenotype.
Mol Genet Genomic Med
; 11(1): e2088, 2023 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-36424846
7.
Adverse Events in Genetic Testing: The Fourth Case Series.
Cancer J
; 25(4): 231-236, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-31335384
8.
Attitudes of parents of children with serious health conditions regarding residual bloodspot use.
Public Health Genomics
; 17(3): 141-8, 2014.
Artículo
en Inglés
| MEDLINE | ID: mdl-24713606
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