Related references
Note: Only part of the references are listed.Pain correlates with germline mutation in schwannomatosis
Justin T. Jordan et al.
MEDICINE (2018)
22q and two: 22q11.2 deletion syndrome and coexisting conditions
Jennifer L. Cohen et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2018)
Creation of an international registry to support discovery in schwannomatosis
K. L. Ostrow et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2017)
Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation
Jennifer E. Posey et al.
NEW ENGLAND JOURNAL OF MEDICINE (2017)
Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole-exome sequencing
T. B. Balci et al.
CLINICAL GENETICS (2017)
Clinical features of spinal schwannomas in 65 patients with schwannomatosis compared with 831 with solitary schwannomas and 102 with neurofibromatosis Type 2: a retrospective study at a single institution
Peng Li et al.
JOURNAL OF NEUROSURGERY-SPINE (2016)
Familial 7q11.23 duplication with variable phenotype
Siddaramappa J. Patil et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2015)
7q11.23 Duplication Syndrome: Physical Characteristics and Natural History
Colleen A. Morris et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2015)
Expanding the mutational spectrum of LZTR1 in schwannomatosis
Irene Paganini et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2015)
Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas
Arkadiusz Piotrowski et al.
NATURE GENETICS (2014)
Schwannomatosis, sporadic schwannomatosis, and familial schwannomatosis: a surgical series with long-term follow-up Clinical article
Augusto Gonzalvo et al.
JOURNAL OF NEUROSURGERY (2011)
The Human Phenotype Ontology: A Tool for Annotating and Analyzing Human Hereditary Disease
Peter N. Robinson et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
Share Paper
