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Livia Garavelli

Showing results (121-130 of 156) with videos related to

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Molecular Cell|October 12, 2021
NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brainSanxiong Liu, Kimberly A Aldinger, Chi Vicky Cheng, et al.
Molecular Cell|November 19, 2021
NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brainSanxiong Liu, Kimberly A Aldinger, Chi Vicky Cheng, et al.
American Journal of Medical Genetics. Part A|October 12, 2020
Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomaliesSara Giangiobbe, Stefano Giuseppe Caraffi, Ivan Ivanovski, et al.
Epilepsy & Behavior : E&B|October 7, 2021
Further delineation and long-term evolution of electroclinical phenotype in Mowat Wilson Syndrome. A longitudinal study in 40 individualsEmilia Ricci, Anna Fetta, Livia Garavelli, et al.
Kidney International|February 25, 2017
The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosisViviana Palazzo, Aldesia Provenzano, Francesca Becherucci, et al.
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.
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.
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.
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.
Pageof 16

Showing results (121-130 of 156) with videos related to

Sort By:
Pageof 16
Molecular Cell|October 12, 2021
NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brainSanxiong Liu, Kimberly A Aldinger, Chi Vicky Cheng, et al.
Molecular Cell|November 19, 2021
NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brainSanxiong Liu, Kimberly A Aldinger, Chi Vicky Cheng, et al.
American Journal of Medical Genetics. Part A|October 12, 2020
Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomaliesSara Giangiobbe, Stefano Giuseppe Caraffi, Ivan Ivanovski, et al.
Epilepsy & Behavior : E&B|October 7, 2021
Further delineation and long-term evolution of electroclinical phenotype in Mowat Wilson Syndrome. A longitudinal study in 40 individualsEmilia Ricci, Anna Fetta, Livia Garavelli, et al.
Kidney International|February 25, 2017
The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosisViviana Palazzo, Aldesia Provenzano, Francesca Becherucci, et al.
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.
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.
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.
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.
Pageof 16