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论文共 425 篇作者统计合作学者相似作者

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Description of Eight Novel Cases with Variants in DNAH14 Gene and Review of the Clinical and Molecular Features
Patricia Pascual Vinagre,Alejandro Parra,Mario Cazalla,Cristina Silvan,Natalia Gallego, Pedro Arias, Isabelle Thiffault, Daphna Marom, Sarah Donogue,Kenneth Myers, Hans A. Mayr, Shane McKee, Marcello Scala, Jair Tenorio,Pablo Lapunzina
EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 531-531
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An Intragenic Duplication in the AFF2 Gene Associated with Cornelia De Lange Syndrome Phenotype
Cristina Lucia-Campos, Ilaria Parenti, Ana Latorre-Pellicer, Marta Gil-Salvador, Ilaria Bestetti, Palma Finelli, Lidia Larizza, María Arnedo,Ariadna Ayerza-Casas, Julia Del Rincón,Laura Trujillano, Beatriz Morte, Luis A Pérez-Jurado,Pablo Lapunzina,Elsa Leitão, Jasmin Beygo, Christina Lich,Fabian Kilpert, Sabine Kaya, Christel Depienne, Frank J Kaiser, Feliciano J Ramos,Beatriz Puisac,Juan Pié
Frontiers in genetics (2024): 1472543-1472543
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Snijders-Blok-Campeau Syndrome (CHD3 Gene): Description of Seven Clinical Cases with Novel Pathogenic Variants
Patricia Pascual Vinagre, Jair Tenorio,Mario Cazalla,Alejandro Parra,Cristina Silvan,Natalia Gallego, Pedro Arias, Feliciano Ramos, Julian Nevado,Pablo Lapunzina, Berta Almoguera Castillo,Varunvenkat Srinivasan,Vykuntaraju K. Gowda
EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 489-489
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[Multiple Endocrine Neoplasia and Very Early Onset Inflammatory Bowel Disease. an Unexpected Association]
Santiago i. Rossi, Silvia Baleani,Ximena Prado,Carolina Pascual, Cecilia Tennina, Pablo Malagrino, Ana Vieites,Alejandro Parra,Mario Cazalla,Jair tenorio Castano,Pablo Lapunzina
PubMedno. 2 (2024): 347-350
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作者统计

#Papers: 426

#Citation: 10132

H-Index: 52

G-Index: 88

Sociability: 8

Diversity: 0

Activity: 5

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