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Paula Goldenberg

Showing results (11-20 of 18) with videos related to

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Frontiers in Genetics|July 10, 2023
Case report: Extending the spectrum of clinical and molecular findings in FOXC1 haploinsufficiency syndromeAlexandra Garza Flores, Ida Nordgren, Maria Pettersson, et al.
American Journal of Medical Genetics. Part A|July 29, 2018
Nonreentrant atrial tachycardia occurs independently of hypertrophic cardiomyopathy in RASopathy patientsMark D Levin, Sulagna C Saitta, Karen W Gripp, et al.
Brain : a Journal of Neurology|January 31, 2023
SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegiaSiddharth Srivastava, Hagar Mor Shaked, Kenneth Gable, et al.
Human Mutation|April 21, 2016
Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation DeficiencyChloé Saunier, Svein Isungset Støve, Bernt Popp, et al.
American Journal of Medical Genetics. Part A|February 11, 2022
Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotoniaMatthew A Lines, Paula Goldenberg, Ashley Wong, et al.
Annals of Neurology|October 11, 2019
Spectrum of K<sub>V</sub> 2.1 Dysfunction in KCNB1-Associated Neurodevelopmental DisordersSeok Kyu Kang, Carlos G Vanoye, Sunita N Misra, et al.
American Journal of Human Genetics|April 23, 2025
Bi-allelic UGGT1 variants cause a congenital disorder of glycosylationZain Dardas, Laura Harrold, Daniel G Calame, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 11, 2023
Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disordersFranziska Langhammer, Reza Maroofian, Rueda Badar, et al.
Pageof 2

Showing results (11-20 of 18) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 18 results.
Frontiers in Genetics|July 10, 2023
Case report: Extending the spectrum of clinical and molecular findings in FOXC1 haploinsufficiency syndromeAlexandra Garza Flores, Ida Nordgren, Maria Pettersson, et al.
American Journal of Medical Genetics. Part A|July 29, 2018
Nonreentrant atrial tachycardia occurs independently of hypertrophic cardiomyopathy in RASopathy patientsMark D Levin, Sulagna C Saitta, Karen W Gripp, et al.
Brain : a Journal of Neurology|January 31, 2023
SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegiaSiddharth Srivastava, Hagar Mor Shaked, Kenneth Gable, et al.
Human Mutation|April 21, 2016
Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation DeficiencyChloé Saunier, Svein Isungset Støve, Bernt Popp, et al.
American Journal of Medical Genetics. Part A|February 11, 2022
Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotoniaMatthew A Lines, Paula Goldenberg, Ashley Wong, et al.
Annals of Neurology|October 11, 2019
Spectrum of K<sub>V</sub> 2.1 Dysfunction in KCNB1-Associated Neurodevelopmental DisordersSeok Kyu Kang, Carlos G Vanoye, Sunita N Misra, et al.
American Journal of Human Genetics|April 23, 2025
Bi-allelic UGGT1 variants cause a congenital disorder of glycosylationZain Dardas, Laura Harrold, Daniel G Calame, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 11, 2023
Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disordersFranziska Langhammer, Reza Maroofian, Rueda Badar, et al.
Pageof 2