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Mari-Anne Vals

Showing results (1-10 of 17) with videos related to

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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.
Molecular Genetics and Metabolism Reports|February 2, 2018
High incidence of low vitamin B12 levels in Estonian newbornsKarit Reinson, Kadi Künnapas, Annika Kriisa, 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.
Acta Paediatrica (Oslo, Norway : 1992)|November 27, 2012
Follow-up study of 2-year-olds born at very low gestational age in EstoniaLiis Toome, Heili Varendi, Mairi Männamaa, et al.
Fetal and Pediatric Pathology|August 17, 2025
<i>ACTG2</i>-Related Visceral Myopathy: Case Reports with Phenotypic Variations and Review of the Previously Published CasesEva-Liina Süüden, Eliisa Appelberg, Mari-Anne Vals, 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.
Molecular Syndromology|January 7, 2016
Familial 1.3-Mb 11p15.5p15.4 Duplication in Three Generations Causing Silver-Russell and Beckwith-Wiedemann SyndromesMari-Anne Vals, Tiina Kahre, Pille Mee, et al.
European Journal of Human Genetics : EJHG|February 27, 2014
Coffin-Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B geneMari-Anne Vals, Eve Õiglane-Shlik, Margit Nõukas, et al.
Genetic Testing and Molecular Biomarkers|October 28, 2015
The Frequency of Methylation Abnormalities Among Estonian Patients Selected by Clinical Diagnostic Scoring Systems for Silver-Russell Syndrome and Beckwith-Wiedemann SyndromeMari-Anne Vals, Maria Yakoreva, Tiina Kahre, et al.
European Journal of Human Genetics : EJHG|June 13, 2019
A retrospective analysis of the prevalence of imprinting disorders in Estonia from 1998 to 2016Maria Yakoreva, Tiina Kahre, Riina Žordania, et al.
Pageof 2

Showing results (1-10 of 17) with videos related to

Sort By:
Pageof 2
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.
Molecular Genetics and Metabolism Reports|February 2, 2018
High incidence of low vitamin B12 levels in Estonian newbornsKarit Reinson, Kadi Künnapas, Annika Kriisa, 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.
Acta Paediatrica (Oslo, Norway : 1992)|November 27, 2012
Follow-up study of 2-year-olds born at very low gestational age in EstoniaLiis Toome, Heili Varendi, Mairi Männamaa, et al.
Fetal and Pediatric Pathology|August 17, 2025
<i>ACTG2</i>-Related Visceral Myopathy: Case Reports with Phenotypic Variations and Review of the Previously Published CasesEva-Liina Süüden, Eliisa Appelberg, Mari-Anne Vals, 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.
Molecular Syndromology|January 7, 2016
Familial 1.3-Mb 11p15.5p15.4 Duplication in Three Generations Causing Silver-Russell and Beckwith-Wiedemann SyndromesMari-Anne Vals, Tiina Kahre, Pille Mee, et al.
European Journal of Human Genetics : EJHG|February 27, 2014
Coffin-Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B geneMari-Anne Vals, Eve Õiglane-Shlik, Margit Nõukas, et al.
Genetic Testing and Molecular Biomarkers|October 28, 2015
The Frequency of Methylation Abnormalities Among Estonian Patients Selected by Clinical Diagnostic Scoring Systems for Silver-Russell Syndrome and Beckwith-Wiedemann SyndromeMari-Anne Vals, Maria Yakoreva, Tiina Kahre, et al.
European Journal of Human Genetics : EJHG|June 13, 2019
A retrospective analysis of the prevalence of imprinting disorders in Estonia from 1998 to 2016Maria Yakoreva, Tiina Kahre, Riina Žordania, et al.
Pageof 2