Related references
Note: Only part of the references are listed.Clinical Validation of a Myeloid Next-Generation Sequencing Panel for Single-Nucleotide Variants, Insertions/Deletions, and Fusion Genes
Iyare Izevbaye et al.
JOURNAL OF MOLECULAR DIAGNOSTICS (2020)
Goldenhar syndrome: current perspectives
Katarzyna Bogusiak et al.
WORLD JOURNAL OF PEDIATRICS (2017)
A Case Report of Absent Epiglottis in Children With Nager Syndrome: Its Impact on Swallowing
Sok Yan Tay et al.
CLEFT PALATE-CRANIOFACIAL JOURNAL (2017)
Rare syndromes of the head and face: mandibulofacial and acrofacial dysostoses
Karla Terrazas et al.
WILEY INTERDISCIPLINARY REVIEWS-DEVELOPMENTAL BIOLOGY (2017)
Prenatal diagnosis of Nager syndrome in a 12-week-old fetus with a whole gene deletion of SF3B4 by chromosomal microarray
Ida Charlotte Bay Lund et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2016)
Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause
F. Petit et al.
CLINICAL GENETICS (2014)
Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome
J. C. Czeschik et al.
HUMAN GENETICS (2013)
Haploinsufficiency of SF3B4, a Component of the Pre-mRNA Spliceosomal Complex, Causes Nager Syndrome
Francois P. Bernier et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
Miller syndrome with novel dihydroorotate dehydrogenase gene mutations
Fumiko Kinoshita et al.
PEDIATRICS INTERNATIONAL (2011)
Otologic and audiologic features of Nager acrofacial dysostosis
BW Herrmann et al.
INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY (2005)
Share Paper
