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1
Nature magazine 2018.02.01
Nature magazine
extended
springer
macmillan
analysis
reserved
mice
supplementary
genome
figure
gene
letter
viruses
rna
temperature
genes
mitochondrial
ddx21
mass
experiments
dna
sequencing
krasg12d
observed
protein
tet2
restricted
assembly
mouse
shown
tailed
sequences
mrna
levels
reconstitution
core
independent
specific
methods
scale
marine
radical
tcof1
representative
samples
pollen
ray
evolution
reconstructions
species
djr
年:
2018
语言:
english
文件:
PDF, 133.93 MB
您的标签:
0
/
0
english, 2018
2
Treacher Collins Syndrome - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers
Philip M. Parker
syndrome
collins
treacher
gene
pubmed
dna
www.ncbi.nlm.nih.gov
cmd
entrez
bstractplus
dopt
itool
list_uids
pubmed_docsum
query.fcgi
query_hl
retrieve
genes
genetics
disorder
chromosome
testing
national
disorders
mutations
protein
proteins
mutation
chromosomes
journal
therapy
clinical
tcof1
dixon
genome
specific
function
person’s
risk
tissue
affected
guidelines
search
resources
factors
studies
inherited
amino
patient
patients
年:
2007
语言:
english
文件:
PDF, 1.16 MB
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0
/
0
english, 2007
3
De novo variants are a common cause of genetic hearing loss
American College of Medical Genetics and Genomics
Miles J. Klimara & Carla Nishimura & Donghong Wang & Diana L. Kolbe & Amanda M. Schaefer & William D. Walls & Kathy L. Frees & Richard J.H. Smith & Hela Azaiez
dnvs
variants
genes
probands
doi.org
reported
analysis
contribution
dnv
actg1
gene
spectrum
detected
mitf
cohort
hearing
pm2
congenital
diagnosis
strc
supplemental
syndrome
testing
diagnoses
gata3
acmg
gjb2
syndromic
rate
adnshl
figure
otoscope
phenotype
segregation
sequencing
atp2b2
deafness
mild
dfna20
genome
klimara
m.j
molecular
nshl
patients
pp4
genet
genomic
ps4_sup
six1
语言:
english
文件:
PDF, 1.00 MB
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/
3.5
english
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