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The Laryngoscope
|
December 6, 2006
Inner ear dysplasia is common in children with Down syndrome (trisomy 21)
Susan Blaser, Evan J Propst, Daniel Martin, et al.
American Journal of Medical Genetics. Part A
|
May 29, 2013
Broadening the ciliopathy spectrum: motile cilia dyskinesia, and nephronophthisis associated with a previously unreported homozygous mutation in the INVS/NPHP2 gene
Sharon Moalem, Sarah Keating, Patrick Shannon, et al.
Prenatal Diagnosis
|
December 10, 2016
Mutations in the NEB gene cause fetal akinesia/arthrogryposis multiplex congenita
Michal Feingold-Zadok, David Chitayat, Karen Chong, et al.
American Journal of Medical Genetics. Part A
|
November 15, 2007
Raine syndrome: a rare lethal osteosclerotic bone dysplasia. Prenatal diagnosis, autopsy, and neuropathological findings
David Chitayat, Patrick Shannon, Sarah Keating, et al.
The Biochemical Journal
|
July 16, 2003
Inhibition of human ornithine decarboxylase activity by enantiomers of difluoromethylornithine
Ning Qu, Natalia A Ignatenko, Phillip Yamauchi, et al.
Epilepsia
|
April 20, 2007
Evaluation of subcortical white matter and deep white matter tracts in malformations of cortical development
Elysa Widjaja, Susan Blaser, Elka Miller, et al.
Prenatal Diagnosis
|
June 6, 2024
Associations and outcomes of prenatally detected rhombencephalosynapsis
Yada Kunpalin, Elka Miller, Kamini Raghuram, et al.
Human Molecular Genetics
|
April 23, 2004
Laforin preferentially binds the neurotoxic starch-like polyglucosans, which form in its absence in progressive myoclonus epilepsy
Elayne M Chan, Cameron A Ackerley, Hannes Lohi, et al.
Neurobiology of Disease
|
April 27, 2007
Hypoglycemic seizures during transient hypoglycemia exacerbate hippocampal dysfunction
Peter A Abdelmalik, Patrick Shannon, Adelaide Yiu, et al.
The American Journal of Pathology
|
July 23, 2013
Fetal reprogramming and senescence in hypoplastic left heart syndrome and in human pluripotent stem cells during cardiac differentiation
Naila Gaber, Mark Gagliardi, Pranali Patel, et al.
Page
of 10
Search research articles
Search
Showing results (61-70 of 100) with videos related to
Sort By:
Page
of 10
The Laryngoscope
|
December 6, 2006
Inner ear dysplasia is common in children with Down syndrome (trisomy 21)
Susan Blaser, Evan J Propst, Daniel Martin, et al.
American Journal of Medical Genetics. Part A
|
May 29, 2013
Broadening the ciliopathy spectrum: motile cilia dyskinesia, and nephronophthisis associated with a previously unreported homozygous mutation in the INVS/NPHP2 gene
Sharon Moalem, Sarah Keating, Patrick Shannon, et al.
Prenatal Diagnosis
|
December 10, 2016
Mutations in the NEB gene cause fetal akinesia/arthrogryposis multiplex congenita
Michal Feingold-Zadok, David Chitayat, Karen Chong, et al.
American Journal of Medical Genetics. Part A
|
November 15, 2007
Raine syndrome: a rare lethal osteosclerotic bone dysplasia. Prenatal diagnosis, autopsy, and neuropathological findings
David Chitayat, Patrick Shannon, Sarah Keating, et al.
The Biochemical Journal
|
July 16, 2003
Inhibition of human ornithine decarboxylase activity by enantiomers of difluoromethylornithine
Ning Qu, Natalia A Ignatenko, Phillip Yamauchi, et al.
Epilepsia
|
April 20, 2007
Evaluation of subcortical white matter and deep white matter tracts in malformations of cortical development
Elysa Widjaja, Susan Blaser, Elka Miller, et al.
Prenatal Diagnosis
|
June 6, 2024
Associations and outcomes of prenatally detected rhombencephalosynapsis
Yada Kunpalin, Elka Miller, Kamini Raghuram, et al.
Human Molecular Genetics
|
April 23, 2004
Laforin preferentially binds the neurotoxic starch-like polyglucosans, which form in its absence in progressive myoclonus epilepsy
Elayne M Chan, Cameron A Ackerley, Hannes Lohi, et al.
Neurobiology of Disease
|
April 27, 2007
Hypoglycemic seizures during transient hypoglycemia exacerbate hippocampal dysfunction
Peter A Abdelmalik, Patrick Shannon, Adelaide Yiu, et al.
The American Journal of Pathology
|
July 23, 2013
Fetal reprogramming and senescence in hypoplastic left heart syndrome and in human pluripotent stem cells during cardiac differentiation
Naila Gaber, Mark Gagliardi, Pranali Patel, et al.
Page
of 10