Hereditary neuropathy with liability to pressure palsies (HNPP): Intrafamilial phenotypic variability and early childhood refusal to walk as the presenting symptom by Shani Karklinsky, Shir Kugler, Omer Bar-Yosef, Andreea Nissenkorn, Anat Grossman-Jonish, Irit Tirosh, Asaf Vivante, Ben Pode-Shakked

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Refining the Phenotypic Spectrum of KMT5B-Associated Developmental Delay by Aviva Eliyahu, Aviva Eliyahu, Ortal Barel, Ortal Barel, Lior Greenbaum, Lior Greenbaum, Lior Greenbaum, Gal Zaks Hoffer, Gal Zaks Hoffer, Yael Goldberg, Yael Goldberg, Annick Raas-Rothschild, Annick Raas-Rothschild, Amihood Singer, Ifat Bar-Joseph, Ifat Bar-Joseph, Vered Kunik, Elisheva Javasky, Elisheva Javasky, Orna Staretz-Chacham, Orna Staretz-Chacham, Naomi Pode-Shakked, Naomi Pode-Shakked, Naomi Pode-Shakked, Lily Bazak, Lily Bazak, Lily Bazak, Noa Ruhrman-Shahar, Noa Ruhrman-Shahar, Elon Pras, Elon Pras, Moshe Frydman, Moshe Frydman, Mordechai Shohat, Mordechai Shohat, Ben Pode-Shakked, Ben Pode-Shakked, Ben Pode-Shakked

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Progressive Pseudorheumatoid Dysplasia resolved by whole exome sequencing: a novel mutation in WISP3 and review of the literature by Ben Pode-Shakked, Asaf Vivante, Ortal Barel, Shai Padeh, Dina Marek-Yagel, Alvit Veber, Shachar Abudi, Aviva Eliyahu, Irit Tirosh, Shiri Shpilman, Shirlee Shril, Friedhelm Hildebrandt, Mordechai Shohat, Yair Anikster

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Whole exome sequencing in childhood-onset lupus frequently detects single gene etiologies by Irit Tirosh, Shiri Spielman, Ortal Barel, Reut Ram, Tali Stauber, Gideon Paret, Marina Rubinsthein, Itai M. Pessach, Maya Gerstein, Yair Anikster, Rachel Shukrun, Adi Dagan, Katerina Adler, Ben Pode-Shakked, Alexander Volkov, Marina Perelman, Shoshana Greenberger, Raz Somech, Einat Lahav, Amar J. Majmundar, Shai Padeh, Friedhelm Hildebrandt, Asaf Vivante

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