about
Intellectual disability associated with a homozygous missense mutation in THOC6Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy.Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosaHomozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation.Molecular Genetic Analysis in Autosomal Dominant KeratoconusSpinal muscular atrophy within Amish and Mennonite populations: Ancestral haplotypes and natural history
P50
description
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Erik G Puffenberger
@ast
Erik G Puffenberger
@en
Erik G Puffenberger
@es
Erik G Puffenberger
@nl
type
label
Erik G Puffenberger
@ast
Erik G Puffenberger
@en
Erik G Puffenberger
@es
Erik G Puffenberger
@nl
prefLabel
Erik G Puffenberger
@ast
Erik G Puffenberger
@en
Erik G Puffenberger
@es
Erik G Puffenberger
@nl
P106
P1153
6603628700
P31
P496
0000-0002-6388-9148