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전체선택

Dopachrome tautomerase variants in patients with oculocutaneous albinism

학술저널

issue: Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 23(3):479-487
Author: Pennamen, Perrine^{Aff1, Aff2}
Tingaud-Sequeira, Angèle
Gazova, Iveta
Keighren, Margaret
McKie, Lisa
Marlin, Sandrine
Gherbi Halem, Souad
Kaplan, Josseline
Delevoye, Cédric
Lacombe, Didier
Plaisant, Claudio
Michaud, Vincent
Lasseaux, Eulalie
Javerzat, Sophie
Jackson, Ian^{Aff3, Aff7}
Arveiler, Benoit^{Aff1, Aff2}
DB Label: Database : Springer Nature Journals

원문보기: Full Text (ScienceDirect O/A) 등재 - Web of Science (SCIE) 등재 - SCOPUS 조회 - Impact Factor (JCR) 원문복사신청 - FRIC

Confirmation of FZD5 implication in a cohort of 50 patients with ocular coloboma

학술저널

issue: European Journal of Human Genetics. 29(1):131-140
Author: Aubert-Mucca, Marion
Pernin-Grandjean, Julie
Marchasson, Sébastien
Gaston, Veronique
Habib, Christophe
Meunier, Isabelle
Sigaudy, Sabine
Kaplan, Josseline
Roche, Olivier
Denis, Danièle
Bitoun, Pierre
Haye, Damien
Verloes, Alain
Calvas, Patrick^{Aff1, Aff9, Aff10}
Chassaing, Nicolas^{Aff1, Aff9, Aff10}
Plaisancié, Julie^{Aff1, Aff9, Aff10}
DB Label: Database : Springer Nature Journals

원문보기: 등재 - Web of Science (SCIE) 등재 - SCOPUS 조회 - Impact Factor (JCR)

Les progrès en génétique peuvent-ils être un instrument de trahison ?

전자책

issue: Confiance, défiance, trahison. Colloque Gypsy XIX. 2020, p. 39-41.
Author: Kaplan, Josseline
DB Label: Database : Cairn.info

원문보기

PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature review

학술저널

issue: In European Journal of Medical Genetics November 2020 63(11)
Author: Mercati, Oriane
Abi Warde, Marie-Thérèse
Lina-Granade, Geneviève
Rio, Marlène
Heide, Solveig
de Lonlay, Pascale
Ceballos-Picot, Irène
Robert, Matthieu P.
Couloigner, Vincent
Beltrand, Jacques
Boddaert, Nathalie
Rodriguez, Diana
Rubinato, Elisa
Lapierre, Jean-Michel
Merlette, Christophe
Sanquer, Sylvia
Rötig, Agnès
Prokisch, Holger
Lyonnet, Stanislas
Loundon, Natalie
Kaplan, Josseline
Bonnefont, Jean-Paul
Munnich, Arnold
Besmond, Claude
Jonard, Laurence
Marlin, Sandrine
DB Label: Database : ScienceDirect

원문보기: Full Text (ScienceDirect) Full Text (Clinical Key) 등재 - Web of Science (SCIE) 등재 - SCOPUS 조회 - Impact Factor (JCR)

Genetic Deciphering of Early-Onset and Severe Retinal Dystrophy Associated with Sensorineural Hearing Loss

전자책

issue: Retinal Degenerative Diseases : Mechanisms and Experimental Therapy. 1185:233-238
Author: Mechaussier, Sabrina^Aff11
Marlin, Sandrine^Aff12
Kaplan, Josseline^Aff11
Rozet, Jean-Michel^Aff11
Perrault, Isabelle^Aff11
DB Label: Database : Springer Nature eBooks

원문보기

Description of Two Siblings with Apparently Severe CEP290 Mutations and Unusually Mild Retinal Disease Unrelated to Basal Exon Skipping or Nonsense-Associated Altered Splicing

전자책