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1.
Novel LSS variants in alopecia and intellectual disability syndrome: New case report and clinical spectrum of LSS-related rare disease traits.
Clin Genet
; 104(3): 344-349, 2023 09.
Article
in English
| MEDLINE | ID: mdl-37157980
2.
Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking.
J Inherit Metab Dis
; 46(6): 1195-1205, 2023 11.
Article
in English
| MEDLINE | ID: mdl-37711075
3.
Neurodevelopmental disorder in an Egyptian family with a biallelic ALKBH8 variant.
Am J Med Genet A
; 185(4): 1288-1293, 2021 04.
Article
in English
| MEDLINE | ID: mdl-33544954
4.
Biallelic in-frame deletion in TRAPPC4 in a family with developmental delay and cerebellar atrophy.
Brain
; 143(10): e83, 2020 10 01.
Article
in English
| MEDLINE | ID: mdl-33011761
5.
Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity.
Genome Med
; 15(1): 102, 2023 Nov 29.
Article
in English
| MEDLINE | ID: mdl-38031187
6.
Analysis of the Symmetry of Crystal Packing Forces by Methyl Proton Tunneling: A Strategy for the Unambiguous Assignment of the Magnetic Jahn - Teller Effect in Molecules.
Angew Chem Int Ed Engl
; 37(3): 317-320, 1998 Feb 16.
Article
in English
| MEDLINE | ID: mdl-29711258
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