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Publications by Andrew Dauber

SCRIB and PUF60 Are Primary Drivers of the Multisystemic Phenotypes of the 8q24.3 Copy-Number Variant

American Journal of Human Genetics

Genetics

2013

English

Genome-Wide Association of Copy-Number Variation Reveals an Association Between Short Stature and the Presence of Low-Frequency Genomic Deletions

American Journal of Human Genetics

Genetics

2011

English

De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism

American Journal of Human Genetics

Genetics

2019

English

Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects

American Journal of Human Genetics

Genetics

2016

English

Dominant-Negative STAT5B Mutations Cause Growth Hormone Insensitivity With Short Stature and Mild Immune Dysregulation

Nature Communications

English

Postoperative Adrenal Crisis in an Adolescent With Loeys-Dietz Syndrome and Undiagnosed Adrenoleukodystrophy

Canadian Journal of Anaesthesia

English

Skeletal Dysplasia, Global Developmental Delay, and Multiple Congenital Anomalies in a 5-Year-Old Boy-Report of the Second Family withB3GAT3mutation and Expansion of the Phenotype

American Journal of Medical Genetics, Part A

Genetics

2014

English

Isolated Central Hypothyroidism in Young Siblings as a Manifestation of PROP1 Deficiency: Clinical Impact of Whole Exome Sequencing

Hormone Research in Paediatrics

English

Two Patients With Severe Short Stature Due to a FBN1 Mutation (p.Ala1728Val) With a Mild Form of Acromicric Dysplasia

Hormone Research in Paediatrics

English

Nocturnal Dexamethasone Versus Hydrocortisone for the Treatment of Children With Congenital Adrenal Hyperplasia

International Journal of Pediatric Endocrinology

English

Amanote Research

Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Andrew Dauber

SCRIB and PUF60 Are Primary Drivers of the Multisystemic Phenotypes of the 8q24.3 Copy-Number Variant

Genome-Wide Association of Copy-Number Variation Reveals an Association Between Short Stature and the Presence of Low-Frequency Genomic Deletions

De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism

Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects

Dominant-Negative STAT5B Mutations Cause Growth Hormone Insensitivity With Short Stature and Mild Immune Dysregulation

Postoperative Adrenal Crisis in an Adolescent With Loeys-Dietz Syndrome and Undiagnosed Adrenoleukodystrophy

Skeletal Dysplasia, Global Developmental Delay, and Multiple Congenital Anomalies in a 5-Year-Old Boy-Report of the Second Family withB3GAT3mutation and Expansion of the Phenotype

Isolated Central Hypothyroidism in Young Siblings as a Manifestation of PROP1 Deficiency: Clinical Impact of Whole Exome Sequencing

Two Patients With Severe Short Stature Due to a FBN1 Mutation (p.Ala1728Val) With a Mild Form of Acromicric Dysplasia

Nocturnal Dexamethasone Versus Hydrocortisone for the Treatment of Children With Congenital Adrenal Hyperplasia