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Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases.
Am J Med Genet A. 2024 Apr;194(4):e63476. doi: 10.1002/ajmg.a.63476. Epub 2023 Nov 16.
Am J Med Genet A. 2024.
PMID: 37974505
New intragenic rearrangements in non-Finnish mulibrey nanism.
Jobic F, Morin G, Vincent-Delorme C, Cadet E, Cabry R, Mathieu-Dramard M, Copin H, Rochette J, Jedraszak G.
Jobic F, et al.
Am J Med Genet A. 2017 Oct;173(10):2782-2788. doi: 10.1002/ajmg.a.38381. Epub 2017 Aug 17.
Am J Med Genet A. 2017.
PMID: 28815877
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Kleefstra syndrome: Recurrence in siblings due to a paternal mosaic mutation.
Jobic F, Lacot-Leriche E, Piton A, Le Moing AG, Mathieu-Dramard M, Costantini S, Morin G, Jedraszak G.
Jobic F, et al.
Am J Med Genet A. 2021 Dec;185(12):3877-3883. doi: 10.1002/ajmg.a.62448. Epub 2021 Aug 6.
Am J Med Genet A. 2021.
PMID: 34357686
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Catatonic syndrome and Baraitser Winter syndrome: Case report and review of the literature.
Diab E, Morin G, Hery L, Barbier V, Cottin G, Jobic F, Tir M.
Diab E, et al. Among authors: jobic f.
Eur J Med Genet. 2022 Sep;65(9):104559. doi: 10.1016/j.ejmg.2022.104559. Epub 2022 Jul 6.
Eur J Med Genet. 2022.
PMID: 35803559
Review.
No abstract available.
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Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome).
Courdier C, Boudjarane J, Malan V, Muti C, Sperelakis-Beedham B, Odent S, Jaillard S, Quelin C, Le Caignec C, Patat O, Dubucs C, Julia S, Schluth-Bolard C, Goumy C, Redon S, Gaillard JB, Huynh MT, Dupont C, Tabet AC, Cogan G, Vialard F, Dard R, Jedraszak G, Jobic F, Lefebvre M, Quenum G, Inai S, Rama M, Sauvestre F, Coatleven F, Thomas J, Rooryck C.
Courdier C, et al. Among authors: jobic f.
Prenat Diagn. 2023 Jun;43(6):734-745. doi: 10.1002/pd.6340. Epub 2023 Mar 23.
Prenat Diagn. 2023.
PMID: 36914926
Free article.
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Ellis-Van Creveld Syndrome: Clinical and Molecular Analysis of 50 Individuals.
Aubert-Mucca M, Huber C, Baujat G, Michot C, Zarhrate M, Bras M, Boutaud L, Malan V, Attie-Bitach T; Clinical Contributors; Cormier-Daire V.
Aubert-Mucca M, et al.
J Med Genet. 2023 Apr;60(4):337-345. doi: 10.1136/jmg-2022-108435. Epub 2022 Aug 4.
J Med Genet. 2023.
PMID: 35927022
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Contribution of Whole-Genome Sequencing and Transcript Analysis to Decipher Retinal Diseases Associated with MFSD8 Variants.
Poncet AF, Grunewald O, Vaclavik V, Meunier I, Drumare I, Pelletier V, Bocquet B, Todorova MG, Le Moing AG, Devos A, Schorderet DF, Jobic F, Defoort-Dhellemmes S, Dollfus H, Smirnov VM, Dhaenens CM.
Poncet AF, et al. Among authors: jobic f.
Int J Mol Sci. 2022 Apr 13;23(8):4294. doi: 10.3390/ijms23084294.
Int J Mol Sci. 2022.
PMID: 35457110
Free PMC article.
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