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Research Interests

Papers共 33 篇Author StatisticsCo-AuthorSimilar Experts

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COG6-related Prenatal Phenotype (CDG2L): Clinico-pathological Report and Review of the Literature
Sarah Guterman,Agnese Feresin, Lucile Boutaud, Clémence Jacquin,Stanislas Lyonnet, Jean-Pierre Bernard,Claire Colmant, Philippe Roth,Nicolas Bourgon, Pierre Mace, Alice Thoreau,Yves Ville, Joana Bengoa, Zaina Ait Arkoub,Cécile Fourrage,Ferechté Encha-Razavi,Bettina Bessières,Tania Attié-Bitach
Molecular genetics & genomic medicineno. 4 (2025): e2442-e2442
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TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition (vol 188A, pg 2652, 2022)
L. Musante,F. Faletra, K. Meier, H. Tomoum, P. Najarzadeh Torbati, E. Blair, S. North, J. Gartner, S. Diegmann,M. Beiraghi Toosi,F. Ashrafzadeh,E. Ghayoor Karimiani, D. Murphy, F. M. Murru, A. Magnolato,M. La Bianca,A. Feresin,G. Girotto,M. Carrozzi
AMERICAN JOURNAL OF MEDICAL GENETICS PART Ano. 3 (2023): 910-910
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Author Statistics

#Papers: 33

#Citation: 75

H-Index: 5

G-Index: 8

Sociability: 6

Diversity: 2

Activity: 7

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