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American Journal of Medical Genetics. Part A
|
February 5, 2003
Broad phenotypic spectrum caused by an identical heterozygous CDMP-1 mutation in three unrelated families
Ravi Savarirayan, Susan M White, Frances R Goodman, et al.
American Journal of Medical Genetics. Part A
|
May 7, 2016
KCNK9 imprinting syndrome-further delineation of a possible treatable disorder
John M Graham, Neda Zadeh, Melissa Kelley, et al.
European Journal of Radiology
|
February 15, 2011
Tumor disease and associated congenital abnormalities on prenatal MRI
Stefan F Nemec, Ernst Horcher, Gregor Kasprian, et al.
American Journal of Medical Genetics. Part A
|
September 30, 2022
Familial Bainbridge-Ropers syndrome: Report of familial ASXL3 inheritance and a milder phenotype
Schaida Schirwani, Emily Woods, David A Koolen, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
December 5, 2023
Listening to patients with suspected genetic diagnoses: A narrative perspective
Robert B Slocum, Anna C E Hurst, Ellis Shelley, et al.
Journal of Human Genetics
|
February 24, 2017
GRIN1 mutation associated with intellectual disability alters NMDA receptor trafficking and function
Wenjuan Chen, Christine Shieh, Sharon A Swanger, et al.
American Journal of Medical Genetics. Part A
|
February 26, 2004
Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes
Joseph G Gleeson, Lesley C Keeler, Melissa A Parisi, et al.
American Journal of Human Genetics
|
February 1, 2002
A locus for bilateral perisylvian polymicrogyria maps to Xq28
Laurent Villard, Karine Nguyen, Carlos Cardoso, et al.
American Journal of Medical Genetics. Part A
|
January 10, 2012
Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis
Ghayda M Mirzaa, Robert L Conway, Karen W Gripp, et al.
Molecular Genetics & Genomic Medicine
|
December 25, 2019
When moments matter: Finding answers with rapid exome sequencing
Zöe Powis, Kelly D Farwell Hagman, Kirsten Blanco, et al.
Page
of 21
Search research articles
Search
Showing results (131-140 of 208) with videos related to
Sort By:
Page
of 21
American Journal of Medical Genetics. Part A
|
February 5, 2003
Broad phenotypic spectrum caused by an identical heterozygous CDMP-1 mutation in three unrelated families
Ravi Savarirayan, Susan M White, Frances R Goodman, et al.
American Journal of Medical Genetics. Part A
|
May 7, 2016
KCNK9 imprinting syndrome-further delineation of a possible treatable disorder
John M Graham, Neda Zadeh, Melissa Kelley, et al.
European Journal of Radiology
|
February 15, 2011
Tumor disease and associated congenital abnormalities on prenatal MRI
Stefan F Nemec, Ernst Horcher, Gregor Kasprian, et al.
American Journal of Medical Genetics. Part A
|
September 30, 2022
Familial Bainbridge-Ropers syndrome: Report of familial ASXL3 inheritance and a milder phenotype
Schaida Schirwani, Emily Woods, David A Koolen, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
December 5, 2023
Listening to patients with suspected genetic diagnoses: A narrative perspective
Robert B Slocum, Anna C E Hurst, Ellis Shelley, et al.
Journal of Human Genetics
|
February 24, 2017
GRIN1 mutation associated with intellectual disability alters NMDA receptor trafficking and function
Wenjuan Chen, Christine Shieh, Sharon A Swanger, et al.
American Journal of Medical Genetics. Part A
|
February 26, 2004
Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes
Joseph G Gleeson, Lesley C Keeler, Melissa A Parisi, et al.
American Journal of Human Genetics
|
February 1, 2002
A locus for bilateral perisylvian polymicrogyria maps to Xq28
Laurent Villard, Karine Nguyen, Carlos Cardoso, et al.
American Journal of Medical Genetics. Part A
|
January 10, 2012
Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis
Ghayda M Mirzaa, Robert L Conway, Karen W Gripp, et al.
Molecular Genetics & Genomic Medicine
|
December 25, 2019
When moments matter: Finding answers with rapid exome sequencing
Zöe Powis, Kelly D Farwell Hagman, Kirsten Blanco, et al.
Page
of 21