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Tuula Rinne

Showing results (11-20 of 56) with videos related to

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The Journal of Allergy and Clinical Immunology. in Practice|November 14, 2015
The Immune Phenotype of Patients with CHARGE SyndromePeter Hsu, Alan Ma, Elizabeth H Barnes, et al.
Human Genomics|May 3, 2023
Twist exome capture allows for lower average sequence coverage in clinical exome sequencingBurcu Yaldiz, Erdi Kucuk, Juliet Hampstead, et al.
Nature Genetics|April 12, 2005
MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndromeHans van Bokhoven, Jacopo Celli, Jeroen van Reeuwijk, et al.
European Journal of Pediatrics|June 5, 2023
Hypertrophic neuropathy: a possible cause of pain in children with Noonan syndrome and related disordersFieke Draaisma, Corrie E Erasmus, Hilde M H Braakman, et al.
Scientific Reports|June 5, 2019
Functional characterisation of a novel class of in-frame insertion variants of KRAS and HRASAstrid Eijkelenboom, Frederik M A van Schaik, Robert M van Es, et al.
Frontiers in Endocrinology|January 2, 2023
Challenges in the treatment of late-identified untreated congenital adrenal hyperplasia due to CYP11B1 deficiency: Lessons from a developing countryAgustini Utari, Sultana M H Faradz, Annastasia Ediati, et al.
European Journal of Human Genetics : EJHG|May 26, 2006
Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 geneTuula Rinne, Emanuela Spadoni, Klaus W Kjaer, et al.
Frontiers in Endocrinology|May 22, 2023
Corrigendum: Challenges in the treatment of late-identified untreated congenital adrenal hyperplasia due to CYP11B1 deficiency: Lessons from a developing countryAgustini Utari, Sultana M H Faradz, Annastasia Ediati, et al.
American Journal of Medical Genetics. Part A|June 5, 2025
Severe Nerve Enlargement in SOS2-Related Noonan SyndromeErika Leenders, Fieke Draaisma, Corrie E Erasmus, et al.
Human Molecular Genetics|March 28, 2008
A novel translation re-initiation mechanism for the p63 gene revealed by amino-terminal truncating mutations in Rapp-Hodgkin/Hay-Wells-like syndromesTuula Rinne, Suzanne E Clements, Evert Lamme, et al.
Pageof 6

Showing results (11-20 of 56) with videos related to

Sort By:
Pageof 6
The Journal of Allergy and Clinical Immunology. in Practice|November 14, 2015
The Immune Phenotype of Patients with CHARGE SyndromePeter Hsu, Alan Ma, Elizabeth H Barnes, et al.
Human Genomics|May 3, 2023
Twist exome capture allows for lower average sequence coverage in clinical exome sequencingBurcu Yaldiz, Erdi Kucuk, Juliet Hampstead, et al.
Nature Genetics|April 12, 2005
MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndromeHans van Bokhoven, Jacopo Celli, Jeroen van Reeuwijk, et al.
European Journal of Pediatrics|June 5, 2023
Hypertrophic neuropathy: a possible cause of pain in children with Noonan syndrome and related disordersFieke Draaisma, Corrie E Erasmus, Hilde M H Braakman, et al.
Scientific Reports|June 5, 2019
Functional characterisation of a novel class of in-frame insertion variants of KRAS and HRASAstrid Eijkelenboom, Frederik M A van Schaik, Robert M van Es, et al.
Frontiers in Endocrinology|January 2, 2023
Challenges in the treatment of late-identified untreated congenital adrenal hyperplasia due to CYP11B1 deficiency: Lessons from a developing countryAgustini Utari, Sultana M H Faradz, Annastasia Ediati, et al.
European Journal of Human Genetics : EJHG|May 26, 2006
Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 geneTuula Rinne, Emanuela Spadoni, Klaus W Kjaer, et al.
Frontiers in Endocrinology|May 22, 2023
Corrigendum: Challenges in the treatment of late-identified untreated congenital adrenal hyperplasia due to CYP11B1 deficiency: Lessons from a developing countryAgustini Utari, Sultana M H Faradz, Annastasia Ediati, et al.
American Journal of Medical Genetics. Part A|June 5, 2025
Severe Nerve Enlargement in SOS2-Related Noonan SyndromeErika Leenders, Fieke Draaisma, Corrie E Erasmus, et al.
Human Molecular Genetics|March 28, 2008
A novel translation re-initiation mechanism for the p63 gene revealed by amino-terminal truncating mutations in Rapp-Hodgkin/Hay-Wells-like syndromesTuula Rinne, Suzanne E Clements, Evert Lamme, et al.
Pageof 6