Author/Creator: Ladany, Hagay - British Library Electronic Legal Deposit Catalogue-Journal Issues and Articles Search Results

Author/Creator Ladany, Hagay

1. De novo STXBP1 mutation in a child with developmental delay and spasticity reveals a major structural alteration in the interface with syntaxin 1A. Issue 7 (19th August 2020)

Authors:: Banne, Ehud; Falik‐Zaccai, Tzipora; Brielle, Esther; Kalfon, Limor; Ladany, Hagay; Klinger, Danielle; Schneidman‐Duhovny, Dina; Linial, Michal
Journal:: American journal of medical genetics
Issue:: Volume 183:Issue 7(2020)
Page Start:: 412
Record Type:: Journal Article
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2. Di‐genic inheritance of germline POLE and PMS2 pathogenic variants causes a unique condition associated with pediatric cancer predisposition. Issue 4 (7th January 2022)

Authors:: Michaeli, Orli; Ladany, Hagay; Erez, Ayelet; Ben Shachar, Shay; Izraeli, Shai; Lidzbarsky, Gabriel; Basel‐Salmon, Lina; Biskup, Saskia; Maruvka, Yosef E.; Toledano, Helen; Goldberg, Yael
Journal:: Clinical genetics
Issue:: Volume 101:Issue 4(2022)
Page Start:: 442
Record Type:: Journal Article
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3. OMIC-08. COMPOUND HETEROZYGOSITY OF POLE AND PMS2 LEADS TO CMMRD-LIKE PHENOTYPE- "POLYNCH" SYNDROME. (1st June 2021)

Authors:: Michaeli, Orli; Ladany, Hagay; Maruvka, Yosef E; Erez, Ayelet; Shachar, Shay Ben; Izraeli, Shai; Goldberg, Yael; Toledano, Helen
Journal:: Neuro-oncology
Issue:: Volume 23(2021)Supplement 1
Page Start:: i38
Record Type:: Journal Article
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