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Neurology
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June 10, 2016
TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features
Simona Balestrini, Mathieu Milh, Claudia Castiglioni, et al.
American Journal of Medical Genetics. Part A
|
January 22, 2015
A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype
Paulien A Terhal, Rutger Jan A J Nievelstein, Eva J J Verver, et al.
American Journal of Human Genetics
|
June 5, 2018
De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder
Margot R F Reijnders, Kerry A Miller, Mohsan Alvi, et al.
American Journal of Medical Genetics. Part A
|
September 19, 2009
Expanding CEP290 mutational spectrum in ciliopathies
Lorena Travaglini, Francesco Brancati, Tania Attie-Bitach, et al.
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of 25
Search research articles
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Showing results (241-250 of 244) with videos related to
Sort By:
Page
of 25
You have reached the last page of results.
This site can display upto 244 results.
Neurology
|
June 10, 2016
TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features
Simona Balestrini, Mathieu Milh, Claudia Castiglioni, et al.
American Journal of Medical Genetics. Part A
|
January 22, 2015
A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype
Paulien A Terhal, Rutger Jan A J Nievelstein, Eva J J Verver, et al.
American Journal of Human Genetics
|
June 5, 2018
De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder
Margot R F Reijnders, Kerry A Miller, Mohsan Alvi, et al.
American Journal of Medical Genetics. Part A
|
September 19, 2009
Expanding CEP290 mutational spectrum in ciliopathies
Lorena Travaglini, Francesco Brancati, Tania Attie-Bitach, et al.
Page
of 25