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Novel variants in KAT6B spectrum of disorders expand our kn..:
Yabumoto, Megan
;
Kianmahd, Jessica
;
Singh, Meghna
...
qt9ct9z1sm. , 2021
Link:
https://escholarship.org/uc/item/9ct9z1sm
RT Journal T1
Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms
UL https://suche.suub.uni-bremen.de/peid=base-ftcdlib:oai:escholarship.org:ark:_13030_qt9ct9z1sm&Exemplar=1&LAN=DE A1 Yabumoto, Megan A1 Kianmahd, Jessica A1 Singh, Meghna A1 Palafox, Maria F A1 Wei, Angela A1 Elliott, Kathryn A1 Goodloe, Dana H A1 Dean, S Joy A1 Gooch, Catherine A1 Murray, Brianna K A1 Swartz, Erin A1 Vergano, Samantha A Schrier A1 Towne, Meghan C A1 Nugent, Kimberly A1 Roeder, Elizabeth R A1 Kresge, Christina A1 Pletcher, Beth A A1 Grand, Katheryn A1 Graham, John M A1 Gates, Ryan A1 Gomez‐Ospina, Natalia A1 Ramanathan, Subhadra A1 Clark, Robin Dawn A1 Glaser, Kimberly A1 Benke, Paul J A1 Cohen, Julie S A1 Fatemi, Ali A1 Mu, Weiyi A1 Baranano, Kristin W A1 Madden, Jill A A1 Gubbels, Cynthia S A1 Yu, Timothy W A1 Agrawal, Pankaj B A1 Chambers, Mary‐Kathryn A1 Phornphutkul, Chanika A1 Pugh, John A A1 Tauber, Kate A A1 Azova, Svetlana A1 Smith, Jessica R A1 O'Donnell‐Luria, Anne A1 Medsker, Hannah A1 Srivastava, Siddharth A1 Krakow, Deborah A1 Schweitzer, Daniela N A1 Arboleda, Valerie A PB eScholarship, University of California YR 2021 K1 Biological Sciences K1 Genetics K1 Brain Disorders K1 Congenital Structural Anomalies K1 Clinical Research K1 Pediatric K1 Intellectual and Developmental Disabilities (IDD) K1 Rare Diseases K1 Genetic Testing K1 Aetiology K1 2.1 Biological and endogenous factors K1 Congenital K1 Abnormalities K1 Multiple K1 Alleles K1 Blepharophimosis K1 Cohort Studies K1 Congenital Hypothyroidism K1 Craniofacial Abnormalities K1 Facies K1 Genetic Association Studies K1 Genetic Counseling K1 Genetic Loci K1 Genetic Predisposition to Disease K1 Genotype K1 Heart Defects K1 Histone Acetyltransferases K1 Humans K1 Intellectual Disability K1 Joint Instability K1 Kidney K1 Male K1 Mutation K1 Patella K1 Phenotype K1 Psychomotor Disorders K1 Scrotum K1 Urogenital Abnormalities K1 CRISPR K1 Genitopatellar syndrome K1 KAT6B-related disorders K1 phenotypic spectrum K1 Say-Barber-Biesecker-Young-Simpson syndrome K1 variable expressivity K1 rare genetic diagnosis K1 Medicinal and Biomolecular Chemistry K1 Clinical Sciences JF qt9ct9z1sm LK http://dx.doi.org/https://escholarship.org/uc/item/9ct9z1sm DO https://escholarship.org/uc/item/9ct9z1sm SF ELIB - SuUB Bremen
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