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Research Interests

Papers共 14 篇Author StatisticsCo-AuthorSimilar Experts

By YearBy Citation主题筛选期刊级别筛选合作者筛选合作机构筛选
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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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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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Mortality in Patients with 22q11.2 Rearrangements
Melisa Cilio Arroyuelo,Jair Tenorio-Castano, Luis Fernandez Garcia-Moya,Alejandro Parra,Mario Cazalla,Natalia Gallego, Lucia Miranda,Maria angeles Mori, Luis Garcia-Gueretta,Carlos Labrandero,Elena Mansilla, Emi Rikeros,Fe Garcia-Santiago,Isabel Vallcorba, Pedro Arias,Cristina Silvan,Lucia Deiros Bronte, Julian Nevado,Pablo Lapunzina
GENESno. 9 (2024)
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Author Statistics

#Papers: 14

#Citation: 9

H-Index: 1

G-Index: 2

Sociability: 5

Diversity: 1

Activity: 3

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