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Publications by Sarah Nikkel
TBX15 Mutations Cause Craniofacial Dysmorphism, Hypoplasia of Scapula and Pelvis, and Short Stature in Cousin Syndrome
American Journal of Human Genetics
Genetics
Mutations in MMP9 and MMP13 Determine the Mode of Inheritance and the Clinical Spectrum of Metaphyseal Anadysplasia
American Journal of Human Genetics
Genetics
Related publications
Dysmorphism-Short Stature-Deafness-Disorder of Sex Development Syndrome
De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism
American Journal of Human Genetics
Genetics
ACAN Mutations as a Cause of Familial Short Stature
Clinical Pediatric Endocrinology
Child Health
Endocrinology
Perinatology
Pediatrics
Metabolism
Diabetes
An Unusual Cause of Short Stature-Laron Syndrome
International Journal of Advances in Medicine
Short Stature-Auditory Canal Atresia-Mandibular Hypoplasia-Skeletal Anomalies Syndrome
Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects
American Journal of Human Genetics
Genetics
Choanal Atresia-Hearing Loss-Cardiac Defects-Craniofacial Dysmorphism Syndrome
Dominant-Negative STAT5B Mutations Cause Growth Hormone Insensitivity With Short Stature and Mild Immune Dysregulation
Nature Communications
Astronomy
Genetics
Molecular Biology
Biochemistry
Chemistry
Physics
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
