Search details
1.
Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder.
Genet Med
; 24(4): 880-893, 2022 04.
Article
in English
| MEDLINE | ID: mdl-35101335
2.
Further delineation of phenotypic spectrum of SCN2A-related disorder.
Am J Med Genet A
; 188(3): 867-877, 2022 03.
Article
in English
| MEDLINE | ID: mdl-34894057
3.
Evaluating variants classified as pathogenic in ClinVar in the DDD Study.
Genet Med
; 23(3): 571-575, 2021 03.
Article
in English
| MEDLINE | ID: mdl-33149276
4.
Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features.
HGG Adv
; 5(2): 100273, 2024 Apr 11.
Article
in English
| MEDLINE | ID: mdl-38297832
5.
Progressive osseous heteroplasia: A case report with an unexpected trigger.
Bone Rep
; 18: 101665, 2023 Jun.
Article
in English
| MEDLINE | ID: mdl-36936194
6.
Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features.
medRxiv
; 2023 Sep 28.
Article
in English
| MEDLINE | ID: mdl-37808847
7.
Cataract, abnormal electroretinogram and visual evoked potentials in a child with SMA-LED2 - extending the phenotype.
J Neuromuscul Dis
; 9(6): 803-808, 2022.
Article
in English
| MEDLINE | ID: mdl-36057830
8.
Profound human/mouse differences in alpha-dystrobrevin isoforms: a novel syntrophin-binding site and promoter missing in mouse and rat.
BMC Biol
; 7: 85, 2009 Dec 04.
Article
in English
| MEDLINE | ID: mdl-19961569
9.
LC-ESI-MS/MS determination of oxyhalides (chlorate, perchlorate and bromate) in food and water samples, and chlorate on household water treatment devices along with perchlorate in plants.
Chemosphere
; 235: 757-766, 2019 Nov.
Article
in English
| MEDLINE | ID: mdl-31280044
10.
Genetics of gynaecological cancers.
Best Pract Res Clin Obstet Gynaecol
; 42: 114-124, 2017 Jul.
Article
in English
| MEDLINE | ID: mdl-28202331
11.
A New, Atypical Case of Cobalamin F Disorder Diagnosed by Whole Exome Sequencing.
Mol Syndromol
; 6(5): 254-8, 2016 Feb.
Article
in English
| MEDLINE | ID: mdl-26997947
Results
1 -
11
de 11
1
Next >
>>