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1.
Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disorders.
Genet Med
; 23(8): 1551-1568, 2021 08.
Article
in English
| MEDLINE | ID: mdl-33875846
2.
Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases.
Acta Neuropathol
; 139(3): 415-442, 2020 03.
Article
in English
| MEDLINE | ID: mdl-31820119
3.
LRRK2 Loss-of-Function Variants in Patients with Rare Diseases: No Evidence for a Phenotypic Impact.
Mov Disord
; 36(4): 1029-1031, 2021 04.
Article
in English
| MEDLINE | ID: mdl-33433017
4.
A homozygous frameshift variant in an alternatively spliced exon of DLG5 causes hydrocephalus and renal dysplasia.
Clin Genet
; 95(5): 631-633, 2019 05.
Article
in English
| MEDLINE | ID: mdl-30791088
5.
Clinical and genetic characterization of a cohort of 97 CLN6 patients tested at a single center.
Orphanet J Rare Dis
; 17(1): 179, 2022 05 03.
Article
in English
| MEDLINE | ID: mdl-35505348
6.
Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort.
Eur J Hum Genet
; 29(1): 141-153, 2021 01.
Article
in English
| MEDLINE | ID: mdl-32860008
7.
Novel clinical and genetic insight into CXorf56-associated intellectual disability.
Eur J Hum Genet
; 28(3): 367-372, 2020 03.
Article
in English
| MEDLINE | ID: mdl-31822863
8.
Rapid Large-Scale COVID-19 Testing During Shortages.
Diagnostics (Basel)
; 10(7)2020 Jul 08.
Article
in English
| MEDLINE | ID: mdl-32650631
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