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The Journal of Clinical Investigation
|
March 2, 2026
Deep biochemical phenotyping reveals prognostic value of rare genetic variants in adult kidney stone disease
Johannes Münch, Jana Petrovska, Joana Figueiro-Silva, et al.
European Journal of Human Genetics : EJHG
|
February 13, 2024
Identification of the DNA methylation signature of Mowat-Wilson syndrome
Stefano Giuseppe Caraffi, Liselot van der Laan, Kathleen Rooney, et al.
Molecular Cell
|
October 12, 2021
NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain
Sanxiong 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 brain
Sanxiong 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 anomalies
Sara 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 individuals
Emilia Ricci, Anna Fetta, Livia Garavelli, et al.
American Journal of Medical Genetics. Part A
|
May 3, 2025
Further Delineation of the AUTS2 HX Repeat Domain-Related Phenotype
Esin Nur Erdogan, Chi Vicky Cheng, Stefano G Caraffi, et al.
Orphanet Journal of Rare Diseases
|
June 17, 2020
Mowat-Wilson syndrome: growth charts
Ivan Ivanovski, Olivera Djuric, Serena Broccoli, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 11, 2016
Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients
Livia Garavelli, Ivan Ivanovski, Stefano Giuseppe Caraffi, et al.
HGG Advances
|
March 27, 2026
Monoallelic and biallelic KDM5A variants identified in patients with autism spectrum disorder
Lauretta El Hayek, Ashlesha Gogate, Wei-Chen Chen, et al.
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of 6
Search research articles
Search
Showing results (41-50 of 57) with videos related to
Sort By:
Page
of 6
The Journal of Clinical Investigation
|
March 2, 2026
Deep biochemical phenotyping reveals prognostic value of rare genetic variants in adult kidney stone disease
Johannes Münch, Jana Petrovska, Joana Figueiro-Silva, et al.
European Journal of Human Genetics : EJHG
|
February 13, 2024
Identification of the DNA methylation signature of Mowat-Wilson syndrome
Stefano Giuseppe Caraffi, Liselot van der Laan, Kathleen Rooney, et al.
Molecular Cell
|
October 12, 2021
NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain
Sanxiong 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 brain
Sanxiong 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 anomalies
Sara 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 individuals
Emilia Ricci, Anna Fetta, Livia Garavelli, et al.
American Journal of Medical Genetics. Part A
|
May 3, 2025
Further Delineation of the AUTS2 HX Repeat Domain-Related Phenotype
Esin Nur Erdogan, Chi Vicky Cheng, Stefano G Caraffi, et al.
Orphanet Journal of Rare Diseases
|
June 17, 2020
Mowat-Wilson syndrome: growth charts
Ivan Ivanovski, Olivera Djuric, Serena Broccoli, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 11, 2016
Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients
Livia Garavelli, Ivan Ivanovski, Stefano Giuseppe Caraffi, et al.
HGG Advances
|
March 27, 2026
Monoallelic and biallelic KDM5A variants identified in patients with autism spectrum disorder
Lauretta El Hayek, Ashlesha Gogate, Wei-Chen Chen, et al.
Page
of 6