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Published, Version of Record (VoR)CC BY V4.0, Open
- Title
- Microcephaly, intractable seizures and developmental delay caused by biallelic variants in TBCD : further delineation of a new chaperone-mediated tubulinopathy
- Creators
- B. Pode-Shakked - Tel Aviv UniversityH. Barash - Sheba Medical CenterL. Ziv - Sheba Medical CenterK.W. GrippE. Flex - Istituto Superiore di SanitàO. Barel - Sheba Medical CenterK.S. Carvalho - St. Christopher's Hospital for ChildrenM. Scavina - Dupont HospitalG. Chillemi - SCAI-Super Computing Applications and Innovation Department, CINECA, Rome, Italy.M. Niceta - Bambino Gesù Children's HospitalE. Eyal - Sheba Medical CenterN. Kol - Sheba Medical CenterB. Ben-Zeev - Edmond and Lily Safra Children's HospitalO. Bar-Yosef - Edmond and Lily Safra Children's HospitalD. Marek-Yagel - Edmond and Lily Safra Children's HospitalE. Bertini - Bambino Gesù Children's HospitalA.L. Duker - Dupont HospitalY. Anikster - Edmond and Lily Safra Children's HospitalM. Tartaglia - Dupont HospitalA. Raas-Rothschild - Tel Aviv University
- Publication Details
- Clinical genetics, v 91(5), pp 725-738
- Publisher
- Wiley
- Resource Type
- Journal article
- Language
- English
- Academic Unit
- Pediatrics
- Web of Science ID
- WOS:000399353200009
- Scopus ID
- 2-s2.0-85007021256
- Other Identifier
- 991019168953904721
