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Sander Pajusalu

Showing results (1-10 of 81) with videos related to

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American Journal of Medical Genetics. Part A|April 8, 2015
Novel homozygous mutation in KPTN gene causing a familial intellectual disability-macrocephaly syndromeSander Pajusalu, Tiia Reimand, Katrin Õunap
Neuroscience|February 7, 2018
Hippocampus and Hypothalamus RNA-sequencing of WFS1-deficient MiceMarilin Ivask, Sander Pajusalu, Ene Reimann, et al.
Clinical Case Reports|August 16, 2016
An 8.4-Mb 3q26.33-3q28 microdeletion in a patient with blepharophimosis-intellectual disability syndrome and a review of the literatureKatrin Õunap, Sander Pajusalu, Olga Zilina, et al.
Molecular Syndromology|August 31, 2018
Two Consecutive Pregnancies with Simpson-Golabi-Behmel Syndrome Type 1: Case Report and Review of Published Prenatal CasesKonstantin Ridnõi, Elvira Kurvinen, Sander Pajusalu, et al.
JIMD Reports|July 8, 2017
The Prevalence of PMM2-CDG in Estonia Based on Population Carrier Frequencies and Diagnosed PatientsMari-Anne Vals, Sander Pajusalu, Mart Kals, et al.
Frontiers in Genetics|August 27, 2021
The Estimated Prevalence of N-Linked Congenital Disorders of Glycosylation Across Various Populations Based on Allele Frequencies in General Population DatabasesSander Pajusalu, Mari-Anne Vals, Laura Mihkla, et al.
Molecular Genetics & Genomic Medicine|March 10, 2019
A prenatally diagnosed case of Meckel-Gruber syndrome with novel compound heterozygous pathogenic variants in the TXNDC15 geneKonstantin Ridnõi, Marek Šois, Eve Vaidla, et al.
American Journal of Medical Genetics. Part A|April 21, 2017
Three families with mild PMM2-CDG and normal cognitive developmentMari-Anne Vals, Eva Morava, Kai Teeäär, et al.
European Journal of Medical Genetics|April 25, 2015
De novo deletion of HOXB gene cluster in a patient with failure to thrive, developmental delay, gastroesophageal reflux and bronchiectasisSander Pajusalu, Tiia Reimand, Oivi Uibo, et al.
Molecular Syndromology|September 6, 2018
A New Case of a Rare Combination of Temple Syndrome and Mosaic Trisomy 14 and a Literature ReviewMaria Yakoreva, Tiina Kahre, Sander Pajusalu, et al.
Pageof 9

Showing results (1-10 of 81) with videos related to

Sort By:
Pageof 9
American Journal of Medical Genetics. Part A|April 8, 2015
Novel homozygous mutation in KPTN gene causing a familial intellectual disability-macrocephaly syndromeSander Pajusalu, Tiia Reimand, Katrin Õunap
Neuroscience|February 7, 2018
Hippocampus and Hypothalamus RNA-sequencing of WFS1-deficient MiceMarilin Ivask, Sander Pajusalu, Ene Reimann, et al.
Clinical Case Reports|August 16, 2016
An 8.4-Mb 3q26.33-3q28 microdeletion in a patient with blepharophimosis-intellectual disability syndrome and a review of the literatureKatrin Õunap, Sander Pajusalu, Olga Zilina, et al.
Molecular Syndromology|August 31, 2018
Two Consecutive Pregnancies with Simpson-Golabi-Behmel Syndrome Type 1: Case Report and Review of Published Prenatal CasesKonstantin Ridnõi, Elvira Kurvinen, Sander Pajusalu, et al.
JIMD Reports|July 8, 2017
The Prevalence of PMM2-CDG in Estonia Based on Population Carrier Frequencies and Diagnosed PatientsMari-Anne Vals, Sander Pajusalu, Mart Kals, et al.
Frontiers in Genetics|August 27, 2021
The Estimated Prevalence of N-Linked Congenital Disorders of Glycosylation Across Various Populations Based on Allele Frequencies in General Population DatabasesSander Pajusalu, Mari-Anne Vals, Laura Mihkla, et al.
Molecular Genetics & Genomic Medicine|March 10, 2019
A prenatally diagnosed case of Meckel-Gruber syndrome with novel compound heterozygous pathogenic variants in the TXNDC15 geneKonstantin Ridnõi, Marek Šois, Eve Vaidla, et al.
American Journal of Medical Genetics. Part A|April 21, 2017
Three families with mild PMM2-CDG and normal cognitive developmentMari-Anne Vals, Eva Morava, Kai Teeäär, et al.
European Journal of Medical Genetics|April 25, 2015
De novo deletion of HOXB gene cluster in a patient with failure to thrive, developmental delay, gastroesophageal reflux and bronchiectasisSander Pajusalu, Tiia Reimand, Oivi Uibo, et al.
Molecular Syndromology|September 6, 2018
A New Case of a Rare Combination of Temple Syndrome and Mosaic Trisomy 14 and a Literature ReviewMaria Yakoreva, Tiina Kahre, Sander Pajusalu, et al.
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