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Widening of the genetic and clinical spectrum of Lamb–Shaff..:
Zawerton, Ash
;
Mignot, Cyril
;
Sigafoos, Ashley
...
qt14x4x4wp. , 2020
Link:
https://escholarship.org/uc/item/14x4x4wp
RT Journal T1
Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency
UL https://suche.suub.uni-bremen.de/peid=base-ftcdlib:oai:escholarship.org:ark:_13030_qt14x4x4wp&Exemplar=1&LAN=DE A1 Zawerton, Ash A1 Mignot, Cyril A1 Sigafoos, Ashley A1 Blackburn, Patrick R A1 Haseeb, Abdul A1 McWalter, Kirsty A1 Ichikawa, Shoji A1 Nava, Caroline A1 Keren, Boris A1 Charles, Perrine A1 Marey, Isabelle A1 Tabet, Anne-Claude A1 Levy, Jonathan A1 Perrin, Laurence A1 Hartmann, Andreas A1 Lesca, Gaetan A1 Schluth-Bolard, Caroline A1 Monin, Pauline A1 Dupuis-Girod, Sophie A1 Guillen Sacoto, Maria J A1 Schnur, Rhonda E A1 Zhu, Zehua A1 Poisson, Alice A1 El Chehadeh, Salima A1 Alembik, Yves A1 Bruel, Ange-Line A1 Lehalle, Daphné A1 Nambot, Sophie A1 Moutton, Sébastien A1 Odent, Sylvie A1 Jaillard, Sylvie A1 Dubourg, Christèle A1 Hilhorst-Hofstee, Yvonne A1 Barbaro-Dieber, Tina A1 Ortega, Lucia A1 Bhoj, Elizabeth J A1 Masser-Frye, Diane A1 Bird, Lynne M A1 Lindstrom, Kristin A1 Ramsey, Keri M A1 Narayanan, Vinodh A1 Fassi, Emily A1 Willing, Marcia A1 Cole, Trevor A1 Salter, Claire G A1 Akilapa, Rhoda A1 Vandersteen, Anthony A1 Canham, Natalie A1 Rump, Patrick A1 Gerkes, Erica H A1 Klein Wassink-Ruiter, Jolien S A1 Bijlsma, Emilia A1 Hoffer, Mariëtte JV A1 Vargas, Marcelo A1 Wojcik, Antonina A1 Cherik, Florian A1 Francannet, Christine A1 Rosenfeld, Jill A A1 Machol, Keren A1 Scott, Daryl A A1 Bacino, Carlos A A1 Wang, Xia A1 Clark, Gary D A1 Bertoli, Marta A1 Zwolinski, Simon A1 Thomas, Rhys H A1 Akay, Ela A1 Chang, Richard C A1 Bressi, Rebekah A1 Sanchez Russo, Rossana A1 Srour, Myriam A1 Russell, Laura A1 Goyette, Anne-Marie E A1 Dupuis, Lucie A1 Mendoza-Londono, Roberto A1 Karimov, Catherine A1 Joseph, Maries A1 Nizon, Mathilde A1 Cogné, Benjamin A1 Kuechler, Alma A1 Piton, Amélie A1 Klee, Eric W A1 Lefebvre, Véronique A1 Clark, Karl J A1 Depienne, Christel PB eScholarship, University of California YR 2020 K1 Intellectual and Developmental Disabilities (IDD) K1 Pediatric K1 Genetics K1 Brain Disorders K1 Clinical Research K1 Rare Diseases K1 Human Genome K1 Aetiology K1 2.1 Biological and endogenous factors K1 Adolescent K1 Adult K1 Animals K1 Child K1 Preschool K1 DNA-Binding Proteins K1 Female K1 Genetic Predisposition to Disease K1 Haploinsufficiency K1 Humans K1 Infant K1 Intellectual Disability K1 Language Development Disorders K1 Male K1 Mutation K1 Missense K1 Neurodevelopmental Disorders K1 Pedigree K1 Phenotype K1 SOXD Transcription Factors K1 Young Adult K1 autism K1 developmental delay K1 epilepsy K1 missense variants K1 Deciphering Developmental Disorder Study K1 Clinical Sciences K1 Genetics & Heredity JF qt14x4x4wp LK http://dx.doi.org/https://escholarship.org/uc/item/14x4x4wp DO https://escholarship.org/uc/item/14x4x4wp SF ELIB - SuUB Bremen
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