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Paul R Mark

Showing results (11-20 of 30) with videos related to

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Developmental Biology|October 2, 2025
A zebrafish model of nicotinamide adenine dinucleotide (NAD<sup>+</sup>) deficiency-derived congenital disordersVisakuo Tsurho, Carla Gilliland, Jessica Ensing, et al.
American Journal of Medical Genetics. Part A|March 16, 2013
Narrowing the critical region for congenital vertical talus in patients with interstitial 18q deletionsPaul R Mark, Brian C Radlinski, Nathalie Core, et al.
American Journal of Medical Genetics. Part A|February 6, 2020
Expanding the genotypic spectrum of Jalili syndrome: Novel CNNM4 variants and uniparental isodisomy in a north American patient cohortLev Prasov, Ehsan Ullah, Amy E Turriff, et al.
Cold Spring Harbor Molecular Case Studies|October 28, 2022
Autosomal recessive LRP1-related syndrome featuring cardiopulmonary dysfunction, bone dysmorphology, and corneal cloudingPaul R Mark, Stephen A Murray, Tao Yang, et al.
Clinical Genetics|June 6, 2022
Further characterization of Borjeson-Forssman-Lehmann syndrome in females due to de novo variants in PHF6Céline B Gerber, Anna Fliedner, Oliver Bartsch, et al.
European Journal of Human Genetics : EJHG|March 19, 2026
A three generation family with VACTERL association is found to have a rare form of diamond-blackfan anaemiaIryna Leshchynska, Debjani Das, Victoria O'Reilly, et al.
Journal of Medical Genetics|May 22, 2016
Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypesSusanne Roosing, Marta Romani, Mala Isrie, et al.
Nature Genetics|October 4, 2022
Gain-of-function mutations in KCNK3 cause a developmental disorder with sleep apneaJanina Sörmann, Marcus Schewe, Peter Proks, et al.
Human Genetics|March 25, 2024
Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephalyCharlotte Herbst, Viktoria Bothe, Meret Wegler, et al.
The New England Journal of Medicine|August 10, 2017
NAD Deficiency, Congenital Malformations, and Niacin SupplementationHongjun Shi, Annabelle Enriquez, Melissa Rapadas, et al.
Pageof 3

Showing results (11-20 of 30) with videos related to

Sort By:
Pageof 3
Developmental Biology|October 2, 2025
A zebrafish model of nicotinamide adenine dinucleotide (NAD<sup>+</sup>) deficiency-derived congenital disordersVisakuo Tsurho, Carla Gilliland, Jessica Ensing, et al.
American Journal of Medical Genetics. Part A|March 16, 2013
Narrowing the critical region for congenital vertical talus in patients with interstitial 18q deletionsPaul R Mark, Brian C Radlinski, Nathalie Core, et al.
American Journal of Medical Genetics. Part A|February 6, 2020
Expanding the genotypic spectrum of Jalili syndrome: Novel CNNM4 variants and uniparental isodisomy in a north American patient cohortLev Prasov, Ehsan Ullah, Amy E Turriff, et al.
Cold Spring Harbor Molecular Case Studies|October 28, 2022
Autosomal recessive LRP1-related syndrome featuring cardiopulmonary dysfunction, bone dysmorphology, and corneal cloudingPaul R Mark, Stephen A Murray, Tao Yang, et al.
Clinical Genetics|June 6, 2022
Further characterization of Borjeson-Forssman-Lehmann syndrome in females due to de novo variants in PHF6Céline B Gerber, Anna Fliedner, Oliver Bartsch, et al.
European Journal of Human Genetics : EJHG|March 19, 2026
A three generation family with VACTERL association is found to have a rare form of diamond-blackfan anaemiaIryna Leshchynska, Debjani Das, Victoria O'Reilly, et al.
Journal of Medical Genetics|May 22, 2016
Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypesSusanne Roosing, Marta Romani, Mala Isrie, et al.
Nature Genetics|October 4, 2022
Gain-of-function mutations in KCNK3 cause a developmental disorder with sleep apneaJanina Sörmann, Marcus Schewe, Peter Proks, et al.
Human Genetics|March 25, 2024
Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephalyCharlotte Herbst, Viktoria Bothe, Meret Wegler, et al.
The New England Journal of Medicine|August 10, 2017
NAD Deficiency, Congenital Malformations, and Niacin SupplementationHongjun Shi, Annabelle Enriquez, Melissa Rapadas, et al.
Pageof 3