Absent pituitary gland in two brothers with an oral-facial-digital syndrome resembling OFDS II and VI: a new type of OFDS?

Absent pituitary gland in two brothers with an oral-facial-digital syndrome resembling OFDS II and VI: a new type of OFDS?

Item
http://www.wikidata.org/entity/Q30464446
Aminoglycosides, but not PTC124 (Ataluren), rescue nonsense mutations in the leptin receptor and in luciferase reporter genes.From dystrophinopathy to sarcoglycanopathy: evolution of a concept of muscular dystrophy.High throughput screening in duchenne muscular dystrophy: from drug discovery to functional genomicsTechnology insight: therapy for Duchenne muscular dystrophy-an opportunity for personalized medicine?Genetics of neuromuscular disorders.Characterization of the melanocortin-4-receptor nonsense mutation W16X in vitro and in vivo.Syndrome of facial, oral, and digital anomalies due to 7q21.2-->q22.1 duplication.Diagnostic strategy for the detection of dystrophin gene mutations in asian patients and carriers using immortalized cell lines.Dystrophin and its isoforms.C-terminal truncated dystrophin identified in skeletal muscle of an asymptomatic boy with a novel nonsense mutation of the dystrophin gene.Exon Skipping Therapy Using Phosphorodiamidate Morpholino Oligomers in the mdx52 Mouse Model of Duchenne Muscular Dystrophy.Evaluation of point mutations in dystrophin gene in Iranian Duchenne and Becker muscular dystrophy patients: introducing three novel variants.Automated sequence screening of the entire dystrophin cDNA in Duchenne dystrophy: point mutation detection.
P2860

Absent pituitary gland in two brothers with an oral-facial-digital syndrome resembling OFDS II and VI: a new type of OFDS?

Item
http://www.wikidata.org/entity/Q30464446
description
1995 nî lūn-bûn
@nan
1995 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
1995 թվականի մայիսին հրատարակված գիտական հոդված
@hy
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
name
Absent pituitary gland in two ...... II and VI: a new type of OFDS?
@ast
Absent pituitary gland in two ...... II and VI: a new type of OFDS?
@en
type
label
Absent pituitary gland in two ...... II and VI: a new type of OFDS?
@ast
Absent pituitary gland in two ...... II and VI: a new type of OFDS?
@en
prefLabel
Absent pituitary gland in two ...... II and VI: a new type of OFDS?
@ast
Absent pituitary gland in two ...... II and VI: a new type of OFDS?
@en
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P577
P698
P356
P1433
P1476
Absent pituitary gland in two ...... II and VI: a new type of OFDS?
@en
P2093
P2860
P304
P31
P356
P433
P478
P577
P698