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Human Mutation
|
December 23, 2011
Tissue-specific differences in the proportion of mosaic large NF1 deletions are suggestive of a selective growth advantage of hematopoietic del(+/-) stem cells
Angelika C Roehl, Tanja Mussotter, David N Cooper, et al.
Molecular Genetics & Genomic Medicine
|
May 21, 2018
Co-occurrence of schwannomatosis and rhabdoid tumor predisposition syndrome 1
Hildegard Kehrer-Sawatzki, Uwe Kordes, Simone Seiffert, et al.
The Journal of Investigative Dermatology
|
January 11, 2013
Functional MHC class II is upregulated in neurofibromin-deficient Schwann cells
David E Reuss, Jana Mucha, Nikola Holtkamp, et al.
Human Mutation
|
May 28, 2010
A novel third type of recurrent NF1 microdeletion mediated by nonallelic homologous recombination between LRRC37B-containing low-copy repeats in 17q11.2
Kathrin Bengesser, David N Cooper, Katharina Steinmann, et al.
Nucleic Acids Research
|
October 24, 2009
GeMInA, Genomic Metadata for Infectious Agents, a geospatial surveillance pathogen database
Lynn M Schriml, Cesar Arze, Suvarna Nadendla, et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology
|
March 8, 2012
Clinical presentation, immunohistochemistry and electron microscopy indicate neurofibromatosis type 2-associated gliomas to be spinal ependymomas
Christian Hagel, Anat O Stemmer-Rachamimov, Antje Bornemann, et al.
Pediatric Blood & Cancer
|
June 8, 2021
Evidence for a low-penetrant extended phenotype of rhabdoid tumor predisposition syndrome type 1 from a kindred with gain of SMARCB1 exon 6
Uwe Kordes, Victor-Felix Mautner, Florian Oyen, et al.
Diagnostics (Basel, Switzerland)
|
December 3, 2020
Assessment of Peripheral Nervous System Alterations in Patients with the Fabry Related <i>GLA</i>-Variant p.A143T
Tim Godel, Katharina V Cossel, Reinhard E Friedrich, et al.
Cancers
|
April 3, 2021
Risk Stratification for Immediate Postoperative Hearing Loss by Preoperative BAER (Brainstem Auditory Evoked Response) and Audiometry in NF2-Associated Vestibular Schwannomas
Isabel Gugel, Florian Grimm, Philip Hartjen, et al.
Journal of Medical Genetics
|
June 10, 2010
Diagnosis, management, and complications of glomus tumours of the digits in neurofibromatosis type 1
Douglas R Stewart, Jennifer L Sloan, Lawrence Yao, et al.
Page
of 15
Search research articles
Search
Showing results (101-110 of 147) with videos related to
Sort By:
Page
of 15
Human Mutation
|
December 23, 2011
Tissue-specific differences in the proportion of mosaic large NF1 deletions are suggestive of a selective growth advantage of hematopoietic del(+/-) stem cells
Angelika C Roehl, Tanja Mussotter, David N Cooper, et al.
Molecular Genetics & Genomic Medicine
|
May 21, 2018
Co-occurrence of schwannomatosis and rhabdoid tumor predisposition syndrome 1
Hildegard Kehrer-Sawatzki, Uwe Kordes, Simone Seiffert, et al.
The Journal of Investigative Dermatology
|
January 11, 2013
Functional MHC class II is upregulated in neurofibromin-deficient Schwann cells
David E Reuss, Jana Mucha, Nikola Holtkamp, et al.
Human Mutation
|
May 28, 2010
A novel third type of recurrent NF1 microdeletion mediated by nonallelic homologous recombination between LRRC37B-containing low-copy repeats in 17q11.2
Kathrin Bengesser, David N Cooper, Katharina Steinmann, et al.
Nucleic Acids Research
|
October 24, 2009
GeMInA, Genomic Metadata for Infectious Agents, a geospatial surveillance pathogen database
Lynn M Schriml, Cesar Arze, Suvarna Nadendla, et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology
|
March 8, 2012
Clinical presentation, immunohistochemistry and electron microscopy indicate neurofibromatosis type 2-associated gliomas to be spinal ependymomas
Christian Hagel, Anat O Stemmer-Rachamimov, Antje Bornemann, et al.
Pediatric Blood & Cancer
|
June 8, 2021
Evidence for a low-penetrant extended phenotype of rhabdoid tumor predisposition syndrome type 1 from a kindred with gain of SMARCB1 exon 6
Uwe Kordes, Victor-Felix Mautner, Florian Oyen, et al.
Diagnostics (Basel, Switzerland)
|
December 3, 2020
Assessment of Peripheral Nervous System Alterations in Patients with the Fabry Related <i>GLA</i>-Variant p.A143T
Tim Godel, Katharina V Cossel, Reinhard E Friedrich, et al.
Cancers
|
April 3, 2021
Risk Stratification for Immediate Postoperative Hearing Loss by Preoperative BAER (Brainstem Auditory Evoked Response) and Audiometry in NF2-Associated Vestibular Schwannomas
Isabel Gugel, Florian Grimm, Philip Hartjen, et al.
Journal of Medical Genetics
|
June 10, 2010
Diagnosis, management, and complications of glomus tumours of the digits in neurofibromatosis type 1
Douglas R Stewart, Jennifer L Sloan, Lawrence Yao, et al.
Page
of 15