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Showing results (401-410 of 431) with videos related to

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Clinical Endocrinology|March 25, 2025
Moderate to Severe Short Stature and Joint Involvement in Individuals With ACAN DeletionsLucia Sentchordi-Montané, Francisca Díaz-Gonzalez, Silvia Modamio-Høybjør, et al.
European Journal of Human Genetics : EJHG|October 2, 2014
Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variantsBeatriz Paumard-Hernández, Julia Berges-Soria, Eva Barroso, et al.
Orphanet Journal of Rare Diseases|March 16, 2023
Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational studyMohamad Maghnie, Oliver Semler, Encarna Guillen-Navarro, et al.
Nature Communications|February 2, 2018
Cellular stressors contribute to the expansion of hematopoietic clones of varying leukemic potentialTerrence N Wong, Christopher A Miller, Matthew R M Jotte, et al.
Translational Oncology|May 19, 2020
Comprehensive Characterization of the Mutational Landscape in Localized Anal Squamous Cell CarcinomaLucía Trilla-Fuertes, Ismael Ghanem, Joan Maurel, et al.
Human Molecular Genetics|July 5, 2020
TCF12 haploinsufficiency causes autosomal dominant Kallmann syndrome and reveals network-level interactions between causal lociErica E Davis, Ravikumar Balasubramanian, Zachary A Kupchinsky, et al.
The New England Journal of Medicine|November 1, 2018
Immune Escape of Relapsed AML Cells after Allogeneic TransplantationMatthew J Christopher, Allegra A Petti, Michael P Rettig, et al.
Blood Cancer Discovery|June 16, 2022
Convergent Clonal Evolution of Signaling Gene Mutations Is a Hallmark of Myelodysplastic Syndrome ProgressionAndrew J Menssen, Ajay Khanna, Christopher A Miller, et al.
Molecular Genetics & Genomic Medicine|January 25, 2017
Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfectaJose A Caparros-Martin, Mona S Aglan, Samia Temtamy, et al.
American Journal of Human Genetics|October 23, 2018
Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal FeaturesPeter D Turnpenny, Michael J Wright, Melissa Sloman, et al.
Pageof 44

Showing results (401-410 of 431) with videos related to

Sort By:
Pageof 44
Clinical Endocrinology|March 25, 2025
Moderate to Severe Short Stature and Joint Involvement in Individuals With ACAN DeletionsLucia Sentchordi-Montané, Francisca Díaz-Gonzalez, Silvia Modamio-Høybjør, et al.
European Journal of Human Genetics : EJHG|October 2, 2014
Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variantsBeatriz Paumard-Hernández, Julia Berges-Soria, Eva Barroso, et al.
Orphanet Journal of Rare Diseases|March 16, 2023
Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational studyMohamad Maghnie, Oliver Semler, Encarna Guillen-Navarro, et al.
Nature Communications|February 2, 2018
Cellular stressors contribute to the expansion of hematopoietic clones of varying leukemic potentialTerrence N Wong, Christopher A Miller, Matthew R M Jotte, et al.
Translational Oncology|May 19, 2020
Comprehensive Characterization of the Mutational Landscape in Localized Anal Squamous Cell CarcinomaLucía Trilla-Fuertes, Ismael Ghanem, Joan Maurel, et al.
Human Molecular Genetics|July 5, 2020
TCF12 haploinsufficiency causes autosomal dominant Kallmann syndrome and reveals network-level interactions between causal lociErica E Davis, Ravikumar Balasubramanian, Zachary A Kupchinsky, et al.
The New England Journal of Medicine|November 1, 2018
Immune Escape of Relapsed AML Cells after Allogeneic TransplantationMatthew J Christopher, Allegra A Petti, Michael P Rettig, et al.
Blood Cancer Discovery|June 16, 2022
Convergent Clonal Evolution of Signaling Gene Mutations Is a Hallmark of Myelodysplastic Syndrome ProgressionAndrew J Menssen, Ajay Khanna, Christopher A Miller, et al.
Molecular Genetics & Genomic Medicine|January 25, 2017
Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfectaJose A Caparros-Martin, Mona S Aglan, Samia Temtamy, et al.
American Journal of Human Genetics|October 23, 2018
Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal FeaturesPeter D Turnpenny, Michael J Wright, Melissa Sloman, et al.
Pageof 44