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Showing results (261-270 of 276) with videos related to

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Science Translational Medicine|March 2, 2022
Pathogenic variants in <i>MDFIC</i> cause recessive central conducting lymphatic anomaly with lymphedemaAlicia B Byrne, Pascal Brouillard, Drew L Sutton, et al.
JCI Insight|May 8, 2023
Lymphatic disorders caused by mosaic, activating KRAS variants respond to MEK inhibitionSarah E Sheppard, Michael E March, Christoph Seiler, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Elucidating the clinical spectrum and molecular basis of HYAL2 deficiencyJames Fasham, Siying Lin, Promita Ghosh, et al.
American Journal of Medical Genetics. Part A|November 1, 2018
What is new with 22q? An update from the 22q and You Center at the Children's Hospital of PhiladelphiaIan M Campbell, Sarah E Sheppard, T Blaine Crowley, et al.
American Journal of Medical Genetics. Part A|March 16, 2026
The 9th International RASopathies SymposiumPau Castel, Lisa Schoyer, Beth Stronach, et al.
Nature Medicine|June 1, 2023
Genomic profiling informs diagnoses and treatment in vascular anomaliesDong Li, Sarah E Sheppard, Michael E March, et al.
HGG Advances|November 21, 2022
A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorderLot Snijders Blok, Jolijn Verseput, Dmitrijs Rots, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 15, 2021
Correction to: Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of FallotDoris Škorić-Milosavljević, Najim Lahrouchi, Fernanda M Bosada, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 11, 2021
Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of FallotDoris Škorić-Milosavljević, Najim Lahrouchi, Fernanda M Bosada, et al.
Hormone and Metabolic Research = Hormon- Und Stoffwechselforschung = Hormones Et Metabolisme|April 15, 2010
Take action to prevent diabetes--the IMAGE toolkit for the prevention of type 2 diabetes in EuropeJ Lindström, A Neumann, K E Sheppard, et al.
Pageof 28

Showing results (261-270 of 276) with videos related to

Sort By:
Pageof 28
Science Translational Medicine|March 2, 2022
Pathogenic variants in <i>MDFIC</i> cause recessive central conducting lymphatic anomaly with lymphedemaAlicia B Byrne, Pascal Brouillard, Drew L Sutton, et al.
JCI Insight|May 8, 2023
Lymphatic disorders caused by mosaic, activating KRAS variants respond to MEK inhibitionSarah E Sheppard, Michael E March, Christoph Seiler, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Elucidating the clinical spectrum and molecular basis of HYAL2 deficiencyJames Fasham, Siying Lin, Promita Ghosh, et al.
American Journal of Medical Genetics. Part A|November 1, 2018
What is new with 22q? An update from the 22q and You Center at the Children's Hospital of PhiladelphiaIan M Campbell, Sarah E Sheppard, T Blaine Crowley, et al.
American Journal of Medical Genetics. Part A|March 16, 2026
The 9th International RASopathies SymposiumPau Castel, Lisa Schoyer, Beth Stronach, et al.
Nature Medicine|June 1, 2023
Genomic profiling informs diagnoses and treatment in vascular anomaliesDong Li, Sarah E Sheppard, Michael E March, et al.
HGG Advances|November 21, 2022
A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorderLot Snijders Blok, Jolijn Verseput, Dmitrijs Rots, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 15, 2021
Correction to: Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of FallotDoris Škorić-Milosavljević, Najim Lahrouchi, Fernanda M Bosada, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 11, 2021
Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of FallotDoris Škorić-Milosavljević, Najim Lahrouchi, Fernanda M Bosada, et al.
Hormone and Metabolic Research = Hormon- Und Stoffwechselforschung = Hormones Et Metabolisme|April 15, 2010
Take action to prevent diabetes--the IMAGE toolkit for the prevention of type 2 diabetes in EuropeJ Lindström, A Neumann, K E Sheppard, et al.
Pageof 28