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Showing results (191-200 of 202) with videos related to

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Journal of Medical Genetics|September 6, 2015
Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN)Santhosh Dhanraj, Sethu Madhava Rao Gunja, Adam P Deveau, et al.
European Journal of Medical Genetics|February 15, 2014
Overlapping microdeletions involving 15q22.2 narrow the critical region for intellectual disability to NARG2 and RORAToshiyuki Yamamoto, Maria Antonietta Mencarelli, Chiara Di Marco, et al.
Clinical Genetics|August 2, 2011
Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1BC Halgren, S Kjaergaard, M Bak, et al.
American Journal of Medical Genetics. Part A|April 5, 2014
Interstitial 22q13 deletions not involving SHANK3 gene: a new contiguous gene syndromeVittoria Disciglio, Caterina Lo Rizzo, Maria Antonietta Mencarelli, et al.
ACS Applied Bio Materials|January 10, 2022
Endocytosis and the Participation of Glycosaminoglycans Are Important to the Mechanism of Cell Death Induced by β-Hairpin Antimicrobial PeptidesMarcus Vinicius Buri, Letícia Paulino Sperandio, Kamylla F S de Souza, et al.
Biodiversity Data Journal|May 11, 2026
A contribution to the inventory of marine amphipod species from Italian waters based on unpublished sources and FAIR principlesAntonina Badalucco, Rocco Auriemma, Paolo Balistreri, et al.
The Journal of Clinical Endocrinology and Metabolism|February 26, 2024
The Changing Landscape of Neonatal Diabetes Mellitus in Italy Between 2003 and 2022Novella Rapini, Maurizio Delvecchio, Mafalda Mucciolo, et al.
European Journal of Medical Genetics|April 24, 2012
Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardationE K Bijlsma, A Collins, F T Papa, et al.
European Journal of Endocrinology|February 19, 2021
Differences between transient neonatal diabetes mellitus subtypes can guide diagnosis and therapyRiccardo Bonfanti, Dario Iafusco, Ivana Rabbone, et al.
European Journal of Human Genetics : EJHG|June 1, 2024
Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosisMaria Lisa Dentici, Marcello Niceta, Francesca Romana Lepri, et al.
Pageof 21

Showing results (191-200 of 202) with videos related to

Sort By:
Pageof 21
Journal of Medical Genetics|September 6, 2015
Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN)Santhosh Dhanraj, Sethu Madhava Rao Gunja, Adam P Deveau, et al.
European Journal of Medical Genetics|February 15, 2014
Overlapping microdeletions involving 15q22.2 narrow the critical region for intellectual disability to NARG2 and RORAToshiyuki Yamamoto, Maria Antonietta Mencarelli, Chiara Di Marco, et al.
Clinical Genetics|August 2, 2011
Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1BC Halgren, S Kjaergaard, M Bak, et al.
American Journal of Medical Genetics. Part A|April 5, 2014
Interstitial 22q13 deletions not involving SHANK3 gene: a new contiguous gene syndromeVittoria Disciglio, Caterina Lo Rizzo, Maria Antonietta Mencarelli, et al.
ACS Applied Bio Materials|January 10, 2022
Endocytosis and the Participation of Glycosaminoglycans Are Important to the Mechanism of Cell Death Induced by β-Hairpin Antimicrobial PeptidesMarcus Vinicius Buri, Letícia Paulino Sperandio, Kamylla F S de Souza, et al.
Biodiversity Data Journal|May 11, 2026
A contribution to the inventory of marine amphipod species from Italian waters based on unpublished sources and FAIR principlesAntonina Badalucco, Rocco Auriemma, Paolo Balistreri, et al.
The Journal of Clinical Endocrinology and Metabolism|February 26, 2024
The Changing Landscape of Neonatal Diabetes Mellitus in Italy Between 2003 and 2022Novella Rapini, Maurizio Delvecchio, Mafalda Mucciolo, et al.
European Journal of Medical Genetics|April 24, 2012
Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardationE K Bijlsma, A Collins, F T Papa, et al.
European Journal of Endocrinology|February 19, 2021
Differences between transient neonatal diabetes mellitus subtypes can guide diagnosis and therapyRiccardo Bonfanti, Dario Iafusco, Ivana Rabbone, et al.
European Journal of Human Genetics : EJHG|June 1, 2024
Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosisMaria Lisa Dentici, Marcello Niceta, Francesca Romana Lepri, et al.
Pageof 21