Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability.
about
NGS Technologies as a Turning Point in Rare Disease Research , Diagnosis and Treatment.The Role of Co-chaperones in Synaptic Proteostasis and Neurodegenerative Disease.Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China.DNAJC12 and dopa-responsive nonprogressive parkinsonism.DnaJ/Hsp40 Family and Parkinson's Disease.The role of the clinician in the multi-omics era: are you ready?DNAJ Proteins in neurodegeneration: essential and protective factors.
P2860
Q38655437-99592CCB-C752-4ED7-B3AE-74B0C7B9EABAQ39349922-7104F497-279A-4604-84C1-81144B18424DQ42276374-2768349E-1D13-464B-B7AE-1EE6556BFFDBQ47822786-26D5AD10-DD8C-47C8-AF6C-EB1914CCF8C8Q49233227-C6568DDD-3538-4EAA-B04D-AA2AD01B38DEQ49835278-88FDB6EF-2538-498E-AB39-E2C9DEF24FB9Q52420571-7F7499E8-345D-4DDF-82B0-781C3E3056CA
P2860
Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability.
description
2017 nî lūn-bûn
@nan
2017年の論文
@ja
2017年論文
@yue
2017年論文
@zh-hant
2017年論文
@zh-hk
2017年論文
@zh-mo
2017年論文
@zh-tw
2017年论文
@wuu
2017年论文
@zh
2017年论文
@zh-cn
name
Biallelic Mutations in DNAJC12 ...... , and Intellectual Disability.
@en
Biallelic Mutations in DNAJC12 ...... , and Intellectual Disability.
@nl
type
label
Biallelic Mutations in DNAJC12 ...... , and Intellectual Disability.
@en
Biallelic Mutations in DNAJC12 ...... , and Intellectual Disability.
@nl
prefLabel
Biallelic Mutations in DNAJC12 ...... , and Intellectual Disability.
@en
Biallelic Mutations in DNAJC12 ...... , and Intellectual Disability.
@nl
P2093
P2860
P50
P1476
Biallelic Mutations in DNAJC12 ...... a, and Intellectual Disability
@en
P2093
Apolline Imbard
Beat Thöny
Ben Pode-Shakked
Bruria Ben-Zeev
Corinne Gemperle-Britschgi
David Meili
Dina Marek-Yagel
Ertan Mayatepek
Friedrich K Trefz
Gali Heimer
P2860
P304
P356
10.1016/J.AJHG.2017.01.002
P407
P577
2017-01-26T00:00:00Z