MECHANISMS IN ENDOCRINOLOGY: Novel genetic causes of short stature

MECHANISMS IN ENDOCRINOLOGY: Novel genetic causes of short stature

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http://www.wikidata.org/entity/Q28084491
Craniofacial morphology and dental maturity in children with reduced somatic growth of different aetiology and the effect of growth hormone treatment.A Track Record on SHOX: From Basic Research to Complex Models and TherapyInternational Classification of Pediatric Endocrine Diagnoses.One level up: abnormal proteolytic regulation of IGF activity plays a role in human pathophysiologyNovel genetic cause of idiopathic short stature.High diagnostic yield of clinically unidentifiable syndromic growth disorders by targeted exome sequencing.The Role of Insulin-Like Growth Factor 1 in the Progression of Age-Related Hearing Loss.The Rationale for Growth Hormone Therapy in Children with Short Stature.Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause.De Novo Mutation of KAT6B Gene Causing Atypical Say-Barber-Biesecker-Young-Simpson Syndrome or Genitopatellar Syndrome.A novel variant c.97C>T of the Growth Hormone Releasing Hormone Receptor gene causes isolated growth hormone deficiency type Ib.Association between Growth Hormone-Insulin-Like Growth Factor-1 Axis Gene Polymorphisms and Short Stature in Chinese Children.Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature.Novel aggrecan variant, p. Gln2364Pro, causes severe familial nonsyndromic adult short stature and poor growth hormone response in Chinese children.An Association of and Mutations in a Male Presenting With Syndromic Growth FailureScreening a large pediatric cohort with GH deficiency for mutations in genes regulating pituitary development and GH secretion: Frequencies, phenotypes and growth outcomesShort stature as a presenting symptom of attenuated Mucopolysaccharidosis type I: case report and clinical insights
P2860

MECHANISMS IN ENDOCRINOLOGY: Novel genetic causes of short stature

Item
http://www.wikidata.org/entity/Q28084491
description
2016 nî lūn-bûn
@nan
2016 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2016 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2016年の論文
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2016年論文
@yue
2016年論文
@zh-hant
2016年論文
@zh-hk
2016年論文
@zh-mo
2016年論文
@zh-tw
2016年论文
@wuu
name
MECHANISMS IN ENDOCRINOLOGY: Novel genetic causes of short stature
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MECHANISMS IN ENDOCRINOLOGY: Novel genetic causes of short stature
@en
MECHANISMS IN ENDOCRINOLOGY: Novel genetic causes of short stature
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type
label
MECHANISMS IN ENDOCRINOLOGY: Novel genetic causes of short stature
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MECHANISMS IN ENDOCRINOLOGY: Novel genetic causes of short stature
@en
MECHANISMS IN ENDOCRINOLOGY: Novel genetic causes of short stature
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prefLabel
MECHANISMS IN ENDOCRINOLOGY: Novel genetic causes of short stature
@ast
MECHANISMS IN ENDOCRINOLOGY: Novel genetic causes of short stature
@en
MECHANISMS IN ENDOCRINOLOGY: Novel genetic causes of short stature
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P1433
P1476
P2093
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P3181
P356
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P433
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P698
P3181
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MECHANISMS IN ENDOCRINOLOGY: Novel genetic causes of short stature
@en
P2093
P304
P31
P3181
P356
P407
P433
P478
P577
P698