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Tuula Rinne

Showing results (21-30 of 56) with videos related to

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Human Mutation|April 25, 2018
De novo mutations in the SET nuclear proto-oncogene, encoding a component of the inhibitor of histone acetyltransferases (INHAT) complex in patients with nonsyndromic intellectual disabilityServi J C Stevens, Vyne van der Schoot, Magalie S Leduc, et al.
American Journal of Medical Genetics. Part A|May 18, 2017
Identification of a de novo variant in CHUK in a patient with an EEC/AEC syndrome-like phenotype and hypogammaglobulinemiaKriti D Khandelwal, Charlotte W Ockeloen, Hanka Venselaar, et al.
Proceedings of the National Academy of Sciences of the United States of America|January 29, 2013
APR-246/PRIMA-1(MET) rescues epidermal differentiation in skin keratinocytes derived from EEC syndrome patients with p63 mutationsJinfeng Shen, Ellen H van den Bogaard, Evelyn N Kouwenhoven, et al.
The Journal of Clinical Endocrinology and Metabolism|September 7, 2022
Familial Male-limited Precocious Puberty (FMPP) and Testicular Germ Cell TumorsCezanne D Kooij, Annelies M C Mavinkurve-Groothuis, Idske C L Kremer Hovinga, et al.
Journal of Clinical Research in Pediatric Endocrinology|July 18, 2022
Identification of a Novel <i>CYP11B2</i> Variant in a Family with Varying Degrees of Aldosterone Synthase DeficiencyMark R. Garrelfs, Tuula Rinne, Jacquelien J. Hillebrand, et al.
International Journal of Molecular Sciences|July 12, 2025
Targeted Therapy for Complex Lymphatic Anomalies in Patients with Noonan Syndrome and Related DisordersErika K S M Leenders, Vera C van den Brink, Lotte E R Kleimeier, et al.
American Journal of Medical Genetics. Part A|July 3, 2024
Nerve enlargement in patients with Noonan syndrome: A retrospective cohort studyFieke Draaisma, Erika K S M Leenders, Corrie E Erasmus, et al.
European Journal of Human Genetics : EJHG|August 30, 2021
TAB2 deletions and variants cause a highly recognisable syndrome with mitral valve disease, cardiomyopathy, short stature and hypermobilityAafke Engwerda, Erika K S M Leenders, Barbara Frentz, et al.
Journal of Medical Genetics|April 19, 2020
Under-reported aspects of diagnosis and treatment addressed in the Dutch-Flemish guideline for comprehensive diagnostics in disorders/differences of sex developmentYolande van Bever, Hennie T Brüggenwirth, Katja P Wolffenbuttel, et al.
Human Mutation|February 26, 2020
ZMYND11-related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrumThabo M Yates, Morgan Drucker, Angela Barnicoat, et al.
Pageof 6

Showing results (21-30 of 56) with videos related to

Sort By:
Pageof 6
Human Mutation|April 25, 2018
De novo mutations in the SET nuclear proto-oncogene, encoding a component of the inhibitor of histone acetyltransferases (INHAT) complex in patients with nonsyndromic intellectual disabilityServi J C Stevens, Vyne van der Schoot, Magalie S Leduc, et al.
American Journal of Medical Genetics. Part A|May 18, 2017
Identification of a de novo variant in CHUK in a patient with an EEC/AEC syndrome-like phenotype and hypogammaglobulinemiaKriti D Khandelwal, Charlotte W Ockeloen, Hanka Venselaar, et al.
Proceedings of the National Academy of Sciences of the United States of America|January 29, 2013
APR-246/PRIMA-1(MET) rescues epidermal differentiation in skin keratinocytes derived from EEC syndrome patients with p63 mutationsJinfeng Shen, Ellen H van den Bogaard, Evelyn N Kouwenhoven, et al.
The Journal of Clinical Endocrinology and Metabolism|September 7, 2022
Familial Male-limited Precocious Puberty (FMPP) and Testicular Germ Cell TumorsCezanne D Kooij, Annelies M C Mavinkurve-Groothuis, Idske C L Kremer Hovinga, et al.
Journal of Clinical Research in Pediatric Endocrinology|July 18, 2022
Identification of a Novel <i>CYP11B2</i> Variant in a Family with Varying Degrees of Aldosterone Synthase DeficiencyMark R. Garrelfs, Tuula Rinne, Jacquelien J. Hillebrand, et al.
International Journal of Molecular Sciences|July 12, 2025
Targeted Therapy for Complex Lymphatic Anomalies in Patients with Noonan Syndrome and Related DisordersErika K S M Leenders, Vera C van den Brink, Lotte E R Kleimeier, et al.
American Journal of Medical Genetics. Part A|July 3, 2024
Nerve enlargement in patients with Noonan syndrome: A retrospective cohort studyFieke Draaisma, Erika K S M Leenders, Corrie E Erasmus, et al.
European Journal of Human Genetics : EJHG|August 30, 2021
TAB2 deletions and variants cause a highly recognisable syndrome with mitral valve disease, cardiomyopathy, short stature and hypermobilityAafke Engwerda, Erika K S M Leenders, Barbara Frentz, et al.
Journal of Medical Genetics|April 19, 2020
Under-reported aspects of diagnosis and treatment addressed in the Dutch-Flemish guideline for comprehensive diagnostics in disorders/differences of sex developmentYolande van Bever, Hennie T Brüggenwirth, Katja P Wolffenbuttel, et al.
Human Mutation|February 26, 2020
ZMYND11-related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrumThabo M Yates, Morgan Drucker, Angela Barnicoat, et al.
Pageof 6