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- Biesecker Leslie G. guestEditor. [remove] 38
- 616.14205 38
- Medical genetics -- Periodicals 38
- 9p duplication -- Coffin–Siris syndrome -- copy number change -- SMARCA2 -- Nicolaides–Baraitser syndrome 1
- AKT1 mutations -- cranial hyperostosis -- hemimegalencephaly -- meningiomas -- Proteus syndrome 1
- B4GALT7 -- linkeropathy -- corneal clouding -- cataract -- exome sequencing 1
- Baraister–Winter cerebro‐fronto‐facial syndrome -- ACTG1 -- ACTB -- malformation of cortical development -- lissencephaly 1
- CREBBP -- exon 30 -- exon 31 -- whole exome sequencing -- intellectual disability -- Rubinstein–Taybi syndrome -- RSTS -- syndrome -- mutation -- clinical features -- case series -- genotype–phenotype correlation 1
- Hennekam syndrome -- lymphedema -- CCBE1 -- exome sequencing 1
- KCNK9 -- imprinting disorder -- TASK3 -- Birk–Barel syndrome -- potassium channel disorder -- K2P9.1 -- K2P subfamily -- hypotonia -- intellectual disability -- cleft palate -- flufenamic acid -- mefenamic acid -- personalized medicine 1
- Niemann–Pick disease -- acid sphingomyelinase deficiency -- SMPD1 gene mutation -- India 1