Fingerprint Fingerprint is based on mining the text of the persons scientific documents to create an index of weighted terms, which defines the key subjects of each individual researcher.

  • 3 Similar Profiles
Mutation Medicine & Life Sciences
Leukoencephalopathies Medicine & Life Sciences
Seizures Medicine & Life Sciences
Epilepsy Medicine & Life Sciences
Intellectual Disability Medicine & Life Sciences
Demyelinating Diseases Medicine & Life Sciences
Muscle Hypotonia Medicine & Life Sciences
Nervous System Medicine & Life Sciences

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Research Output 2008 2016

De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions

Fregeau, B. , Kim, B. J. , Hernández-García, A. , Jordan, V. K. , Cho, M. T. , Schnur, R. E. , Monaghan, K. G. , Juusola, J. , Rosenfeld, J. A. , Bhoj, E. , Zackai, E. H. , Sacharow, S. , Barañano, K. , Bosch, D. G. M. , De Vries, B. B. A. , Lindstrom, K. , Schroeder, A. , James, P. , Kulch, P. , Lalani, S. R. & 6 others Van Haelst, M. M., Van Gassen, K. L. I., Van Binsbergen, E., Barkovich, A. J., Scott, D. A. & Sherr, E. H. May 5 2016 In : American Journal of Human Genetics. 98, 5, p. 963-970 8 p.

Research output: Contribution to journalArticle

Congenital Heart Defects
Intellectual Disability
Mutation
Urogenital Abnormalities
Haploinsufficiency

Gait disturbance as the presenting symptom in young children with anti-NMDA receptor encephalitis

Yeshokumar, A. K., Sun, L. R., Klein, J. L., Baranano, K. W. & Pardo, C. A. Sep 1 2016 In : Pediatrics. 138, 3, e20160901

Research output: Contribution to journalArticle

Anti-N-Methyl-D-Aspartate Receptor Encephalitis
Gait
Encephalitis
Toddlers
Causes

Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy

Fleming, L., Lemmon, M., Beck, N., Johnson, M., Mu, W., Murdock, D., Bodurtha, J., Hoover-Fong, J., Cohn, R., Bosemani, T., Barañano, K. & Hamosh, A. Jan 1 2016 In : American Journal of Medical Genetics, Part A. 170, 1, p. 77-86 10 p.

Research output: Contribution to journalArticle

Muscle Hypotonia
Genetic Association Studies
Epilepsy
Seizures
Mutation
Leukoencephalopathies
Microcephaly
Intellectual Disability
Mutation
Muscle Hypotonia

Leukodystrophies

Baranano, K. W. Aug 1 2016 In : Seminars in Neurology. 36, 4, p. 362-366 5 p.

Research output: Contribution to journalArticle

Optic Atrophy
Demyelinating Diseases
Ataxia
Molecular Biology
Central Nervous System