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1.
RIPK4 regulates cell-cell adhesion in epidermal development and homeostasis.
Hum Mol Genet
; 31(15): 2535-2547, 2022 08 17.
Article
in English
| MEDLINE | ID: mdl-35220430
2.
Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome.
Hum Genet
; 140(7): 1061-1076, 2021 Jul.
Article
in English
| MEDLINE | ID: mdl-33811546
3.
Keratoderma-Deafness-Mucocutaneous Syndrome Associated with Phe142Leu in the GJB2 Gene.
Acta Derm Venereol
; 99(12): 1192-1194, 2019 Nov 01.
Article
in English
| MEDLINE | ID: mdl-31408183
4.
Systemic Photoprotection in Melanoma and Non-Melanoma Skin Cancer.
Biomolecules
; 13(7)2023 07 02.
Article
in English
| MEDLINE | ID: mdl-37509103
5.
Truncating variants in the penultimate exon of TGFBR1 escaping nonsense-mediated mRNA decay cause Loeys-Dietz syndrome.
Eur J Hum Genet
; 31(5): 596-601, 2023 05.
Article
in English
| MEDLINE | ID: mdl-36599937
6.
Genotypic Categorization of Loeys-Dietz Syndrome Based on 24 Novel Families and Literature Data.
Genes (Basel)
; 10(10)2019 09 28.
Article
in English
| MEDLINE | ID: mdl-31569402
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