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Showing results (71-80 of 79) with videos related to

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Pediatrics|May 1, 2022
Health Supervision for Children and Adolescents With Down SyndromeMarilyn J Bull, Tracy Trotter, Stephanie L Santoro, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 11, 2021
Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11Thomas A Ravenscroft, Jennifer B Phillips, Elizabeth Fieg, et al.
European Journal of Human Genetics : EJHG|July 27, 2023
Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delaysMythily Ganapathi, Leticia S Matsuoka, Michael March, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|May 15, 2010
Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disordersMichael S L Ching, Yiping Shen, Wen-Hann Tan, et al.
Annals of Neurology|May 10, 2014
Copy number variation plays an important role in clinical epilepsyHeather Olson, Yiping Shen, Jennifer Avallone, et al.
NPJ Genomic Medicine|August 23, 2018
An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discoveryAlireza Haghighi, Joel B Krier, Agnes Toth-Petroczy, et al.
American Journal of Human Genetics|March 2, 2005
Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutationsJennifer J Johnston, Isabelle Olivos-Glander, Christina Killoran, et al.
Human Genetics|March 12, 2017
Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPUChristel Depienne, Caroline Nava, Boris Keren, et al.
European Journal of Human Genetics : EJHG|June 3, 2020
A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndromeTheodore G Drivas, Dong Li, Divya Nair, et al.
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Showing results (71-80 of 79) with videos related to

Sort By:
Pageof 8
You have reached the last page of results.This site can display upto 79 results.
Pediatrics|May 1, 2022
Health Supervision for Children and Adolescents With Down SyndromeMarilyn J Bull, Tracy Trotter, Stephanie L Santoro, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 11, 2021
Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11Thomas A Ravenscroft, Jennifer B Phillips, Elizabeth Fieg, et al.
European Journal of Human Genetics : EJHG|July 27, 2023
Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delaysMythily Ganapathi, Leticia S Matsuoka, Michael March, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|May 15, 2010
Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disordersMichael S L Ching, Yiping Shen, Wen-Hann Tan, et al.
Annals of Neurology|May 10, 2014
Copy number variation plays an important role in clinical epilepsyHeather Olson, Yiping Shen, Jennifer Avallone, et al.
NPJ Genomic Medicine|August 23, 2018
An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discoveryAlireza Haghighi, Joel B Krier, Agnes Toth-Petroczy, et al.
American Journal of Human Genetics|March 2, 2005
Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutationsJennifer J Johnston, Isabelle Olivos-Glander, Christina Killoran, et al.
Human Genetics|March 12, 2017
Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPUChristel Depienne, Caroline Nava, Boris Keren, et al.
European Journal of Human Genetics : EJHG|June 3, 2020
A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndromeTheodore G Drivas, Dong Li, Divya Nair, et al.
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