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Garavelli

Showing results (571-580 of 610) with videos related to

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Plos Genetics|May 3, 2011
Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndromeMargot E Bowen, Eric D Boyden, Ingrid A Holm, et al.
American Journal of Medical Genetics. Part A|February 14, 2009
Mowat-Wilson syndrome: facial phenotype changing with age: study of 19 Italian patients and review of the literatureL Garavelli, M Zollino, P Cerruti Mainardi, et al.
European Journal of Human Genetics : EJHG|July 12, 2024
Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlationsEva Vanbelleghem, Tim Van Damme, Aude Beyens, et al.
Leukemia & Lymphoma|July 29, 2016
Hodgkin's Disease in 50 Intravenous Drug Users with HIV-InfectionS Monfardini, U Tirelli, E Vaccher, et al.
European Journal of Human Genetics : EJHG|September 10, 2024
Correction: Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlationsEva Vanbelleghem, Tim Van Damme, Aude Beyens, et al.
Annals of Clinical and Translational Neurology|July 24, 2022
ANKLE2-related microcephaly: A variable microcephaly syndrome resembling Zika infectionAjay X Thomas, Nichole Link, Laurie A Robak, et al.
American Journal of Medical Genetics. Part A|May 3, 2025
Further Delineation of the AUTS2 HX Repeat Domain-Related PhenotypeEsin Nur Erdogan, Chi Vicky Cheng, Stefano G Caraffi, et al.
Plos Genetics|July 14, 2011
Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and miceJoe Rainger, Ellen van Beusekom, Jacqueline K Ramsay, et al.
Plos Genetics|December 27, 2018
Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and MiceJoe Rainger, Ellen van Beusekom, Jacqueline K Ramsay, et al.
Human Mutation|March 18, 2014
Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patientsLucia Micale, Bartolomeo Augello, Claudia Maffeo, et al.
Pageof 61

Showing results (571-580 of 610) with videos related to

Sort By:
Pageof 61
Plos Genetics|May 3, 2011
Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndromeMargot E Bowen, Eric D Boyden, Ingrid A Holm, et al.
American Journal of Medical Genetics. Part A|February 14, 2009
Mowat-Wilson syndrome: facial phenotype changing with age: study of 19 Italian patients and review of the literatureL Garavelli, M Zollino, P Cerruti Mainardi, et al.
European Journal of Human Genetics : EJHG|July 12, 2024
Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlationsEva Vanbelleghem, Tim Van Damme, Aude Beyens, et al.
Leukemia & Lymphoma|July 29, 2016
Hodgkin's Disease in 50 Intravenous Drug Users with HIV-InfectionS Monfardini, U Tirelli, E Vaccher, et al.
European Journal of Human Genetics : EJHG|September 10, 2024
Correction: Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlationsEva Vanbelleghem, Tim Van Damme, Aude Beyens, et al.
Annals of Clinical and Translational Neurology|July 24, 2022
ANKLE2-related microcephaly: A variable microcephaly syndrome resembling Zika infectionAjay X Thomas, Nichole Link, Laurie A Robak, et al.
American Journal of Medical Genetics. Part A|May 3, 2025
Further Delineation of the AUTS2 HX Repeat Domain-Related PhenotypeEsin Nur Erdogan, Chi Vicky Cheng, Stefano G Caraffi, et al.
Plos Genetics|July 14, 2011
Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and miceJoe Rainger, Ellen van Beusekom, Jacqueline K Ramsay, et al.
Plos Genetics|December 27, 2018
Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and MiceJoe Rainger, Ellen van Beusekom, Jacqueline K Ramsay, et al.
Human Mutation|March 18, 2014
Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patientsLucia Micale, Bartolomeo Augello, Claudia Maffeo, et al.
Pageof 61