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G Monaghan

Showing results (171-180 of 229) with videos related to

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Materials Science & Engineering. C, Materials for Biological Applications|July 28, 2019
A bioresorbable biomaterial carrier and passive stabilization device to improve heart function post-myocardial infarctionEimear B Dolan, Björn Hofmann, M Hamman de Vaal, et al.
HGG Advances|April 12, 2025
Homozygous variants in EIF3K associated with neurodevelopmental delay, microcephaly, and growth retardationBobbi McGivern, Tess Holling, Maria J Guillen Sacoto, et al.
American Journal of Human Genetics|August 25, 2015
Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing LossAkemi J Tanaka, Megan T Cho, Francisca Millan, et al.
American Journal of Human Genetics|May 14, 2019
HNRNPR Variants that Impair Homeobox Gene Expression Drive Developmental Disorders in HumansFloor A Duijkers, Andrew McDonald, Georges E Janssens, et al.
American Journal of Human Genetics|March 21, 2017
Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex CongenitaShifeng Xue, Jérôme Maluenda, Florent Marguet, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 8, 2024
A systematic framework for selecting gene-condition pairs for inclusion in newborn sequencing panels: Early Check implementationHeidi L Cope, Laura V Milko, Elizabeth R Jalazo, et al.
Human Molecular Genetics|October 17, 2017
De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defectsAnne Slavotinek, Maurizio Risolino, Marta Losa, et al.
Journal of Medical Genetics|July 6, 2004
Germline E-cadherin mutations in hereditary diffuse gastric cancer: assessment of 42 new families and review of genetic screening criteriaA R Brooks-Wilson, P Kaurah, G Suriano, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 18, 2018
Correction: TANGO2: expanding the clinical phenotype and spectrum of pathogenic variantsJennifer N Dines, Katie Golden-Grant, Amy LaCroix, et al.
EMBO Molecular Medicine|November 15, 2021
BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsySandra Donkervoort, Niklas Krause, Mykola Dergai, et al.
Pageof 23

Showing results (171-180 of 229) with videos related to

Sort By:
Pageof 23
Materials Science & Engineering. C, Materials for Biological Applications|July 28, 2019
A bioresorbable biomaterial carrier and passive stabilization device to improve heart function post-myocardial infarctionEimear B Dolan, Björn Hofmann, M Hamman de Vaal, et al.
HGG Advances|April 12, 2025
Homozygous variants in EIF3K associated with neurodevelopmental delay, microcephaly, and growth retardationBobbi McGivern, Tess Holling, Maria J Guillen Sacoto, et al.
American Journal of Human Genetics|August 25, 2015
Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing LossAkemi J Tanaka, Megan T Cho, Francisca Millan, et al.
American Journal of Human Genetics|May 14, 2019
HNRNPR Variants that Impair Homeobox Gene Expression Drive Developmental Disorders in HumansFloor A Duijkers, Andrew McDonald, Georges E Janssens, et al.
American Journal of Human Genetics|March 21, 2017
Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex CongenitaShifeng Xue, Jérôme Maluenda, Florent Marguet, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 8, 2024
A systematic framework for selecting gene-condition pairs for inclusion in newborn sequencing panels: Early Check implementationHeidi L Cope, Laura V Milko, Elizabeth R Jalazo, et al.
Human Molecular Genetics|October 17, 2017
De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defectsAnne Slavotinek, Maurizio Risolino, Marta Losa, et al.
Journal of Medical Genetics|July 6, 2004
Germline E-cadherin mutations in hereditary diffuse gastric cancer: assessment of 42 new families and review of genetic screening criteriaA R Brooks-Wilson, P Kaurah, G Suriano, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 18, 2018
Correction: TANGO2: expanding the clinical phenotype and spectrum of pathogenic variantsJennifer N Dines, Katie Golden-Grant, Amy LaCroix, et al.
EMBO Molecular Medicine|November 15, 2021
BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsySandra Donkervoort, Niklas Krause, Mykola Dergai, et al.
Pageof 23