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Daniela Del Gaudio

Showing results (11-20 of 55) with videos related to

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Diabetes Research and Clinical Practice|May 8, 2019
GCK-MODY in the US Monogenic Diabetes Registry: Description of 27 unpublished variantsMay Sanyoura, Lisa Letourneau, Amy E Knight Johnson, et al.
Diabetes Research and Clinical Practice|April 12, 2021
Novel compound heterozygous LRBA deletions in a 6-month-old with neonatal diabetesMay Sanyoura, Erika L Lundgrin, Hari Prasanna Subramanian, et al.
Hematological Oncology|May 25, 2022
Exome sequencing identifies PD-L2 as a potential predisposition gene for lymphomaJianming Shao, Lei Gao, Marco L Leung, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 15, 2020
CFTR variant testing: a technical standard of the American College of Medical Genetics and Genomics (ACMG)Joshua L Deignan, Caroline Astbury, Garry R Cutting, et al.
American Journal of Medical Genetics. Part A|December 28, 2020
Further delineation of a recognizable type of syndromic short stature caused by biallelic SEMA3A loss-of-function variantsAlexander F Gileta, Maria L Helgeson, Jacqueline M M Leonard, et al.
Nature Genetics|May 27, 2008
Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA clusterTrilochan Sahoo, Daniela del Gaudio, Jennifer R German, et al.
Gene|January 1, 2014
Two novel RAD21 mutations in patients with mild Cornelia de Lange syndrome-like presentation and report of the first familial caseAgata Minor, Marwan Shinawi, Jacob S Hogue, et al.
European Journal of Medical Genetics|October 2, 2013
MCPH1 deletion in a newborn with severe microcephaly and premature chromosome condensationRuthann B Pfau, Devon Lamb Thrush, Elizabeth Hamelberg, et al.
Journal of Human Genetics|May 20, 2011
LCR-initiated rearrangements at the IDS locus, completed with Alu-mediated recombination or non-homologous end joiningJunko Oshima, Jennifer A Lee, Amy M Breman, et al.
Journal of Human Genetics|March 27, 2015
A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblingsZejuan Li, Rhonda Schonberg, Lucia Guidugli, et al.
Pageof 6

Showing results (11-20 of 55) with videos related to

Sort By:
Pageof 6
Diabetes Research and Clinical Practice|May 8, 2019
GCK-MODY in the US Monogenic Diabetes Registry: Description of 27 unpublished variantsMay Sanyoura, Lisa Letourneau, Amy E Knight Johnson, et al.
Diabetes Research and Clinical Practice|April 12, 2021
Novel compound heterozygous LRBA deletions in a 6-month-old with neonatal diabetesMay Sanyoura, Erika L Lundgrin, Hari Prasanna Subramanian, et al.
Hematological Oncology|May 25, 2022
Exome sequencing identifies PD-L2 as a potential predisposition gene for lymphomaJianming Shao, Lei Gao, Marco L Leung, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 15, 2020
CFTR variant testing: a technical standard of the American College of Medical Genetics and Genomics (ACMG)Joshua L Deignan, Caroline Astbury, Garry R Cutting, et al.
American Journal of Medical Genetics. Part A|December 28, 2020
Further delineation of a recognizable type of syndromic short stature caused by biallelic SEMA3A loss-of-function variantsAlexander F Gileta, Maria L Helgeson, Jacqueline M M Leonard, et al.
Nature Genetics|May 27, 2008
Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA clusterTrilochan Sahoo, Daniela del Gaudio, Jennifer R German, et al.
Gene|January 1, 2014
Two novel RAD21 mutations in patients with mild Cornelia de Lange syndrome-like presentation and report of the first familial caseAgata Minor, Marwan Shinawi, Jacob S Hogue, et al.
European Journal of Medical Genetics|October 2, 2013
MCPH1 deletion in a newborn with severe microcephaly and premature chromosome condensationRuthann B Pfau, Devon Lamb Thrush, Elizabeth Hamelberg, et al.
Journal of Human Genetics|May 20, 2011
LCR-initiated rearrangements at the IDS locus, completed with Alu-mediated recombination or non-homologous end joiningJunko Oshima, Jennifer A Lee, Amy M Breman, et al.
Journal of Human Genetics|March 27, 2015
A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblingsZejuan Li, Rhonda Schonberg, Lucia Guidugli, et al.
Pageof 6