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Cell Cycle (Georgetown, Tex.)
|
January 17, 2007
p63-associated disorders
Tuula Rinne, Hans G Brunner, Hans van Bokhoven
American Journal of Medical Genetics. Part A
|
May 13, 2006
Pattern of p63 mutations and their phenotypes--update
Tuula Rinne, Ben Hamel, Hans van Bokhoven, et al.
American Journal of Medical Genetics. Part A
|
August 14, 2009
Spectrum of p63 mutations in a selected patient cohort affected with ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC)
Tuula Rinne, Emine Bolat, Rowdy Meijer, et al.
Wiener Klinische Wochenschrift
|
August 30, 2008
Genetic analyses in a variant of Mayer-Rokitansky-Kuster-Hauser syndrome (MURCS association)
Gerda Hofstetter, Nicole Concin, Christian Marth, et al.
American Journal of Medical Genetics. Part A
|
July 22, 2025
Expanding the Clinical Spectrum of Cousin Syndrome: A Novel Biallelic Missense Variant in TBX15 Causing a Milder Phenotype
Suzanne E L Detiger, Martijn V Verhagen, Tuula Rinne, et al.
American Journal of Medical Genetics. Part A
|
September 9, 2017
Variable phenotypic expression in a large Noonan syndrome family segregating a novel SOS1 mutation
Dorothée C van Trier, Tuula Rinne, Kees Noordam, et al.
Journal of Medical Genetics
|
May 2, 2019
Prenatal ultrasound findings of rasopathies in a cohort of 424 fetuses: update on genetic testing in the NGS era
Kyra E Stuurman, Marieke Joosten, Ineke van der Burgt, et al.
Acta Dermato-Venereologica
|
October 22, 2019
Oculoectodermal Syndrome - Encephalocraniocutaneous Lipomatosis Associated with NRAS Mutation
Renée J H Richters, Marieke M B Seyger, Kim A P Meeuwis, et al.
American Journal of Medical Genetics. Part A
|
April 26, 2016
Two cases of RIT1 associated Noonan syndrome: Further delineation of the clinical phenotype and review of the literature
Doris Milosavljević, Eline Overwater, Saskia Tamminga, et al.
American Journal of Medical Genetics. Part A
|
August 18, 2022
Lymphatic anomalies during lifetime in patients with Noonan syndrome: Retrospective cohort study
Jessie W Swarts, Lotte E R Kleimeier, Erika K S M Leenders, et al.
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of 6
Search research articles
Search
Showing results (1-10 of 56) with videos related to
Sort By:
Page
of 6
Cell Cycle (Georgetown, Tex.)
|
January 17, 2007
p63-associated disorders
Tuula Rinne, Hans G Brunner, Hans van Bokhoven
American Journal of Medical Genetics. Part A
|
May 13, 2006
Pattern of p63 mutations and their phenotypes--update
Tuula Rinne, Ben Hamel, Hans van Bokhoven, et al.
American Journal of Medical Genetics. Part A
|
August 14, 2009
Spectrum of p63 mutations in a selected patient cohort affected with ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC)
Tuula Rinne, Emine Bolat, Rowdy Meijer, et al.
Wiener Klinische Wochenschrift
|
August 30, 2008
Genetic analyses in a variant of Mayer-Rokitansky-Kuster-Hauser syndrome (MURCS association)
Gerda Hofstetter, Nicole Concin, Christian Marth, et al.
American Journal of Medical Genetics. Part A
|
July 22, 2025
Expanding the Clinical Spectrum of Cousin Syndrome: A Novel Biallelic Missense Variant in TBX15 Causing a Milder Phenotype
Suzanne E L Detiger, Martijn V Verhagen, Tuula Rinne, et al.
American Journal of Medical Genetics. Part A
|
September 9, 2017
Variable phenotypic expression in a large Noonan syndrome family segregating a novel SOS1 mutation
Dorothée C van Trier, Tuula Rinne, Kees Noordam, et al.
Journal of Medical Genetics
|
May 2, 2019
Prenatal ultrasound findings of rasopathies in a cohort of 424 fetuses: update on genetic testing in the NGS era
Kyra E Stuurman, Marieke Joosten, Ineke van der Burgt, et al.
Acta Dermato-Venereologica
|
October 22, 2019
Oculoectodermal Syndrome - Encephalocraniocutaneous Lipomatosis Associated with NRAS Mutation
Renée J H Richters, Marieke M B Seyger, Kim A P Meeuwis, et al.
American Journal of Medical Genetics. Part A
|
April 26, 2016
Two cases of RIT1 associated Noonan syndrome: Further delineation of the clinical phenotype and review of the literature
Doris Milosavljević, Eline Overwater, Saskia Tamminga, et al.
American Journal of Medical Genetics. Part A
|
August 18, 2022
Lymphatic anomalies during lifetime in patients with Noonan syndrome: Retrospective cohort study
Jessie W Swarts, Lotte E R Kleimeier, Erika K S M Leenders, et al.
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of 6