Biblio

8 resultats trouvés
Filtres: Auteur is Cabrol, Christelle  [Clear All Filters]
A
Cabrol C, Bienvenu T, Ruaud L, Girodon E, Noacco G, Delobeau M, Fanian F, Richaud-Thiriez B, Van Maldergem L, Aubin F.  2016.  Aquagenic Palmoplantar Keratoderma as a CFTR-related Disorder. ACTA DERMATO-VENEREOLOGICA. 96:848-849.
Mottet N, Cabrol C, Metz J-P, Toubin C, Arbez-Gindre F, Valduga M, McElreavey K, Riethmuller D, Van Maldergem L, Piard J.  2019.  Autopsy findings of ectodermal dysplasia and sex development disorder in a fetus with 19q12q13 microdeletion. EUROPEAN JOURNAL OF MEDICAL GENETICS. 62:103539.
Ruaud L, Rice GI, Cabrol C, Piard J, Rodero M, van Eyk L, Boucher-Brischoux E, de Noordhout AMaertens, Mare R, Scalais E et al..  2018.  Autosomal-dominant early-onset spastic paraparesis with brain calcification due to IFIH1 gain-of-function. HUMAN MUTATION. 39:1076-1080.
C
Melo USouto, Piard J, Fischer-Zirnsak B, Klever M-K, Schopflin R, Mensah MAtta, Holtgrewe M, Arbez-Gindre F, Martin A, Guigue V et al..  2021.  Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus. HUMAN GENETICS. 140:1459-1469.
Serey-Gaut M, Scala M, Reversade B, Ruaud L, Cabrol C, Musacchia F, Torella A, Accogli A, Escande-Beillard N, Langlais J et al..  2020.  Congenital posterior cervical spine malformation due to biallelic c.240-4T>G RIPPLY2 variant: A discrete entity. AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 182:1466-1472.
Serey-Gaut M, Scala M, Reversade B, Ruaud L, Cabrol C, Musacchia F, Torella A, Accogli A, Escande-Beillard N, Langlais J et al..  2020.  Congenital posterior cervical spine malformation due to biallelic c.240-4T>G RIPPLY2 variant: A discrete entity. AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 182:1466-1472.
M
De Tomasi L, David P, Humbert C, Silbermann F, Arrondel C, Tores F, Fouquet S, Desgrange A, Niel O, Bole-Feysot C et al..  2017.  Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice. AMERICAN JOURNAL OF HUMAN GENETICS. 101:803-814.
O
Lehalle D, Altunoglu U, Bruel A-L, Assoum M, Duffourd Y, Masurel A, Baujat G, Bessieres B, Captier G, Edery P et al..  2018.  The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance. AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 176:2740-2750.