Vardiella Meiner - Hadassah Med Org, Hebrew Univ Jerusalem

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论文共 126 篇作者统计合作学者相似作者

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Clinical and Genetic Characteristics of Carriers of the TP53 C.541c > T, P.arg181cys Pathogenic Variant Causing Hereditary Cancer in Patients of Arab-Muslim Descent

Johnathan Arnon,Aviad Zick,Myriam Maoz, Nada Salaymeh,Ahinoam Gugenheim, MazalTov Marouani, Eden Mor,Tamar Hamburger, Nagam Saadi,Anna Elia,Gael Ganz,Duha Fahham,Amichay Meirovitz,Luna Kadouri,Vardiella Meiner,Tamar Yablonski-Peretz,Shiri Shkedi-Rafid

Familial Cancerpp.1-12, (2024)

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Biallelic Loss of Function Variants in SENP7 Cause Immunodeficiency with Neurologic and Muscular Phenotypes

Erica Sanford Kobayashi,Nava Shaul Lotan,Yael Dinur Schejter,Christine Makowski,Verena Kraus,Nanda Ramchandar,Vardiella Meiner,Isabelle Thiffault,Emily Farrow,Julie Cakici,Stephen Kingsmore,Matias Wagner,Nikolaus Rieber,Matthew Bainbridge

JOURNAL OF PEDIATRICS (2024)

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Variable Clinical Expression of a Novel FLNC Truncating Variant in a Large Family

Orr Tomer,Smadar Horowitz-Cederboim, Dini Rivkin,Vardiella Meiner,Michael H. Gollob,Donna R. Zwas,Ronen Durst,Ayelet Shauer

International Journal of Cardiology (2024): 131849-131849

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Novel RAB39B Mutation Causes Parkinsonism in Males with Developmental Disorder

Roy Dayan, S. Shkedi Rafid,Halen Baker Erdman,Caroline Weill, Avraham Shag,Vardiella Meiner,David Arkadir

Movement disorders clinical practiceno. 3 (2024): 306-308

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The number of non-pathogenic CNVs impacts the risk of preterm birth

Michal Macarov,Tal Bamberger,Naama Elefant,Hanah Margalit,Ayala Frumkin,Shamir Zenvirt,Vardiella Meiner,Shiri Shkedi Rafid,Hagit Hochner

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 102-103

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A Case Report of Familial Mayer-Rokitansky-Küster-Hauser Syndrome As Part of the Phenotypic Spectrum of the 2q37 Deletion

Hagit Daum,Einav Kremer,Ayala Frumkin,Vardiella Meiner, Hagit Diamant,Iris Harel,Dvora Bauman

JOURNAL OF PEDIATRIC AND ADOLESCENT GYNECOLOGYno. 1 (2024): 95-97

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A Novel RYR1 Pathogenic Variant - Common among Libyan Jews and Associated with a Broad Phenotypic Spectrum

Miriam Regev,Amir Dori,Gheona Altarescu,Ortal Barel,Lina Basel-Salmon,Lior Greenbaum,Avi Fellner,Elon Pras,Jana Shamash,Vardiela Meiner,Lily Bazak,Yael Goldberg

Genepp.148725-148725, (2024)

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Talin1 Dysfunction is Genetically Linked to Systemic Capillary Leak Syndrome

Naama Elefant,Georgia Rouni,Christina Arapatzi,Danit Oz-Levi,Racheli Sion-Sarid,William Js Edwards, Neil J Ball,Shira Yanovsky-Dagan,Alana R Cowell,Vardiella Meiner,Vladimir Vainstein,Sofia Grammenoudi,Doron Lancet,Benjamin T Goult,Tamar Harel,Vassiliki Kostourou

JCI insightno. 24 (2024)

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Genome Sequencing Enables Base-Pair Resolution of Structural Variation in Known and Candidate Disease Genes

Emuna Paz-Ebstein,Avivit Cahn, Hallel Rosenberg-Fogler,Shira Yanovsky-Dagan,Shiri Gershon-Naamat,Ayala Frumkin,Vardiella Meiner,Orly Elpeleg,Hagar Mor-Shaked,Tamar Harel

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 596-597

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Exploring the Factors Affecting Classification and Reporting of Uncertain Prenatal Microarray Findings, Using a "virtual Fetus" Model-a Pilot Study

Rachel Michaelson-Cohen,Liat Sheelo Salzer,Dana Brabbing-Goldstein,Yuval Yaron,Adi Reches,Hagith Yonath,Miriam Regev,Hagit Shani,Gheona Altarescu,Reeval Segel,Rivka Sukenik-Halevy,Hagit Daum,Tamar Harel,Vardiella Meiner,Lina Basel-Salmon,Lena Sagi-Dain,Idit Maya

Prenatal Diagnosis (2024)

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