Search details
1.
Clinical features, functional consequences, and rescue pharmacology of missense GRID1 and GRID2 human variants.
Hum Mol Genet
; 33(4): 355-373, 2024 Feb 01.
Article
in English
| MEDLINE | ID: mdl-37944084
2.
Crop Leaf Phenotypic Parameter Measurement Based on the RKM-D Point Cloud Method.
Sensors (Basel)
; 24(6)2024 Mar 21.
Article
in English
| MEDLINE | ID: mdl-38544260
3.
Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy.
Am J Hum Genet
; 106(4): 484-495, 2020 04 02.
Article
in English
| MEDLINE | ID: mdl-32220290
4.
De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism.
Am J Hum Genet
; 107(2): 352-363, 2020 08 06.
Article
in English
| MEDLINE | ID: mdl-32693025
5.
The lived experience of reconstructing identity in response to genetic risk of frontotemporal degeneration and amyotrophic lateral sclerosis.
J Genet Couns
; 2023 Jul 10.
Article
in English
| MEDLINE | ID: mdl-37424394
6.
Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS.
Am J Hum Genet
; 105(1): 151-165, 2019 07 03.
Article
in English
| MEDLINE | ID: mdl-31230722
7.
Genetic testing for the epilepsies: A systematic review.
Epilepsia
; 63(2): 375-387, 2022 02.
Article
in English
| MEDLINE | ID: mdl-34893972
8.
A structured genetics rotation for pediatric residents: an important educational opportunity.
Genet Med
; 22(4): 793-796, 2020 04.
Article
in English
| MEDLINE | ID: mdl-31831883
9.
Adult patients with undiagnosed conditions and their responses to unresolved uncertainty from exome sequencing.
J Genet Couns
; 29(6): 992-1003, 2020 12.
Article
in English
| MEDLINE | ID: mdl-32030847
10.
The utility of whole exome sequencing in diagnosing neurological disorders in adults from a highly consanguineous population.
J Neurogenet
; 33(1): 21-26, 2019 03.
Article
in English
| MEDLINE | ID: mdl-30724636
11.
Factors affecting quality of life in children and adolescents with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorders.
Am J Med Genet A
; 179(4): 561-569, 2019 04.
Article
in English
| MEDLINE | ID: mdl-30703284
12.
Expansion of the clinical spectrum associated with AARS2-related disorders.
Am J Med Genet A
; 179(8): 1556-1564, 2019 08.
Article
in English
| MEDLINE | ID: mdl-31099476
13.
Characterization of pulmonary arteriovenous malformations in ACVRL1 versus ENG mutation carriers in hereditary hemorrhagic telangiectasia.
Genet Med
; 20(6): 639-644, 2018 Jun.
Article
in English
| MEDLINE | ID: mdl-29048420
14.
Pain and sleep quality in children with non-vascular Ehlers-Danlos syndromes.
Am J Med Genet A
; 176(9): 1858-1864, 2018 09.
Article
in English
| MEDLINE | ID: mdl-30178919
15.
De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease.
Hum Genet
; 135(12): 1399-1409, 2016 12.
Article
in English
| MEDLINE | ID: mdl-27681385
16.
Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy.
Am J Med Genet A
; 170A(1): 77-86, 2016 Jan.
Article
in English
| MEDLINE | ID: mdl-26394714
17.
Incontinentia Pigmenti with Persistent Hypercalcemia: Case Report.
Pediatr Dermatol
; 33(5): e315-7, 2016 Sep.
Article
in English
| MEDLINE | ID: mdl-27412134
18.
Omni-Directional Scanning Localization Method of a Mobile Robot Based on Ultrasonic Sensors.
Sensors (Basel)
; 16(12)2016 Dec 20.
Article
in English
| MEDLINE | ID: mdl-27999396
19.
An atypical 0.73 MB microduplication of 22q11.21 and a novel SALL4 missense mutation associated with thumb agenesis and radioulnar synostosis.
Am J Med Genet A
; 167(7): 1644-9, 2015 Jul.
Article
in English
| MEDLINE | ID: mdl-25823593
20.
Optimization of irrigation and fertilization of apples under magnetoelectric water irrigation in extremely arid areas.
Front Plant Sci
; 15: 1356338, 2024.
Article
in English
| MEDLINE | ID: mdl-38571706