Výsledky vyhledávání - Hagit Daum
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BRCA mutations and reproduction Autor Hagit Daum, Tamar Peretz, Neri Laufer
Vydáno 2018Revisão -
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3
GNE variants causing autosomal recessive macrothrombocytopenia without associated muscle wasting Autor Shoshana Revel‐Vilk, Ela Shai, Ernest Turro, Nivin Jahshan, Esti Hi-Am, Galia Spectre, Hagit Daum, Yossef Kalish, Karina Althaus, Andreas Greinacher, Chaim Kaplinsky, Shai Izraeli, Rutendo Mapeta, Sri V. V. Deevi, Danuta Jarocha, Willem H. Ouwehand, Kate Downes, Mortimer Poncz, David Varon, Michele P. Lambert
Vydáno 2018Carta -
4
Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy Autor Melanie Brugger, Antonella Lauri, Zhen Yan, Laura Ludovica Gramegna, Benedikt Zott, Nikolina Sekulić, Giulia Fasano, Robert Kopajtich, Viviana Cordeddu, Francesca Clementina Radio, Cecilia Mancini, Simone Pizzi, Graziamaria Paradisi, Ginevra Zanni, Gessica Vasco, Rosalba Carrozzo, Flavia Palombo, Caterina Tonon, Raffaele Lodi, Chiara La Morgia, Maria Arélin, Cristiane Blechschmidt, Tom Finck, Vigdis Sørensen, Kornelia Kreiser, Gertrud Strobl‐Wildemann, Hagit Daum, Rachel Michaelson‐Cohen, Lucia Ziccardi, Giuseppe Zampino, Holger Prokisch, Rami Abou Jamra, Claudio Fiorini, Thomas Arzberger, Juliane Winkelmann, Leonardo Caporali, Valério Carelli, Harald Stenmark, Marco Tartaglia, Matias Wagner
Vydáno 2024Artigo
Vyhledávací nástroje:
Související témata
Biology
Genetics
Medicine
Disease
Gene
Internal medicine
Mutation
Pregnancy
Atrophy
Bleeding diathesis
Breast cancer
Cancer
Encephalopathy
Endocrinology
Environmental health
Epilepsy
Exome
Exome sequencing
Fertility
Fetus
Gynecology
Immunology
Infertility
Missense mutation
Obstetrics
Oncology
Ovarian cancer
Pathology
Pediatrics
Platelet