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1.
Use of eConsult to enhance genetics service delivery in primary care: A multimethod study.
Genet Med
; 24(10): 2034-2041, 2022 10.
Article
in English
| MEDLINE | ID: mdl-35947109
2.
Cost-effectiveness of genome-wide sequencing for unexplained developmental disabilities and multiple congenital anomalies.
Genet Med
; 23(3): 451-460, 2021 03.
Article
in English
| MEDLINE | ID: mdl-33110268
3.
New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics.
Genet Med
; 23(3): 543-554, 2021 03.
Article
in English
| MEDLINE | ID: mdl-33149277
4.
Correspondence on "cost or price of sequencing? implications for economic evaluations in genomic medicine" by Grosse and Gudgeon.
Genet Med
; 24(1): 251-252, 2022 01.
Article
in English
| MEDLINE | ID: mdl-34906460
5.
Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression.
Genet Med
; 19(1): 53-61, 2017 01.
Article
in English
| MEDLINE | ID: mdl-27195815
6.
Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy.
medRxiv
; 2024 Jan 31.
Article
in English
| MEDLINE | ID: mdl-38352438
7.
Defining and Reporting on Critical Values in Genetics: A Laboratory Survey.
J Appl Lab Med
; 6(5): 1299-1304, 2021 09 01.
Article
in English
| MEDLINE | ID: mdl-34086894
8.
Challenges in Diagnosing Rare Genetic Causes of Common In Utero Presentations: Report of Two Patients with Mucolipidosis Type II (I-Cell Disease).
J Pediatr Genet
; 7(3): 134-137, 2018 Sep.
Article
in English
| MEDLINE | ID: mdl-30105123
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