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Peter Conner

Showing results (41-50 of 46) with videos related to

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European Journal of Human Genetics : EJHG|June 11, 2025
Genome sequencing in a cohort of 32 fetuses with genetic skeletal disordersHillevi Lindelöf, Anna Hammarsjö, Ulrika Voss, et al.
European Journal of Human Genetics : EJHG|May 14, 2015
A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9Emma Tham, Erik A Eklund, Anna Hammarsjö, et al.
Orphanet Journal of Rare Diseases|February 12, 2024
European reference network for rare inherited congenital anomalies (ERNICA) evidence based guideline on the management of gastroschisisCarmen Mesas Burgos, Willemijn Irvine, Alexandre Vivanti, et al.
American Journal of Human Genetics|August 26, 2014
Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathwayRocio Acuna-Hidalgo, Denny Schanze, Ariana Kariminejad, et al.
Orphanet Journal of Rare Diseases|March 7, 2026
ERNICA evidence based guideline on omphaloceleWillemijn Irvine, Linde Margriet van der Kamp, Olivia Spivack, et al.
Journal of Human Genetics|April 20, 2021
High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analysesAnna Hammarsjö, Maria Pettersson, David Chitayat, et al.
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Showing results (41-50 of 46) with videos related to

Sort By:
Pageof 5
You have reached the last page of results.This site can display upto 46 results.
European Journal of Human Genetics : EJHG|June 11, 2025
Genome sequencing in a cohort of 32 fetuses with genetic skeletal disordersHillevi Lindelöf, Anna Hammarsjö, Ulrika Voss, et al.
European Journal of Human Genetics : EJHG|May 14, 2015
A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9Emma Tham, Erik A Eklund, Anna Hammarsjö, et al.
Orphanet Journal of Rare Diseases|February 12, 2024
European reference network for rare inherited congenital anomalies (ERNICA) evidence based guideline on the management of gastroschisisCarmen Mesas Burgos, Willemijn Irvine, Alexandre Vivanti, et al.
American Journal of Human Genetics|August 26, 2014
Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathwayRocio Acuna-Hidalgo, Denny Schanze, Ariana Kariminejad, et al.
Orphanet Journal of Rare Diseases|March 7, 2026
ERNICA evidence based guideline on omphaloceleWillemijn Irvine, Linde Margriet van der Kamp, Olivia Spivack, et al.
Journal of Human Genetics|April 20, 2021
High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analysesAnna Hammarsjö, Maria Pettersson, David Chitayat, et al.
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