Literature DB >> 23604102

Semidominant inheritance in epidermolytic ichthyosis.

Janna Nousbeck1, Gilly Padalon-Brauch1, Dana Fuchs-Telem2, Shirli Israeli1, Ofer Sarig1, Ruth Sheffer3, Eli Sprecher4.   

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Year:  2013        PMID： 23604102     DOI： 10.1038/jid.2013.193

Source DB:  PubMed          Journal:  J Invest Dermatol        ISSN： 0022-202X            Impact factor:   8.551


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  2 in total

1.  Bi-allelic Pro291Leu variant in KCNQ4 leads to early onset non-syndromic hearing loss.

Authors:  Memoona Ramzan; Hafiza Idrees; Ghulam Mujtaba; Nara Sobreira; P Dane Witmer; Sadaf Naz
Journal:  Gene       Date:  2019-04-24       Impact factor: 3.688

2.  Epidermolytic Ichthyosis Sine Epidermolysis.

Authors:  Marina Eskin-Schwartz; Marianna Drozhdina; Ofer Sarig; Andrea Gat; Tomer Jackman; Ofer Isakov; Noam Shomron; Liat Samuelov; Natalia Malchin; Alon Peled; Dan Vodo; Alain Hovnanian; Thomas Ruzicka; Sergei Koshkin; Robert M Harmon; Jennifer L Koetsier; Kathleen J Green; Amy S Paller; Eli Sprecher
Journal:  Am J Dermatopathol       Date:  2017-06       Impact factor: 1.533
  2 in total

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