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Journal of Clinical Research in Pediatric Endocrinology|September 26, 2017

Neonatal Diabetes: Two Cases with Isolated Pancreas Agenesis due to Homozygous PTF1A Enhancer Mutations and One with Developmental Delay, Epilepsy, and Neonatal Diabetes Syndrome due to KCNJ11 MutationOlcay Evliyaoğlu, Oya Ercan, Emel Ataoğlu, et al.

Journal of Pediatric Endocrinology & Metabolism : JPEM|November 13, 2020

Transient neonatal diabetes due to a disease causing novel variant in the ATP-binding cassette subfamily C member 8 (<i>ABCC8</i>) gene unmasks maturity-onset diabetes of the young (MODY) diabetes cases within a familyEleni Z Giannopoulou, Olga Ovcarov, Elisa De Franco, et al.

Pediatric Diabetes|March 10, 2018

Permanent neonatal diabetes mellitus and neurological abnormalities due to a novel homozygous missense mutation in NEUROD1Huseyin Demirbilek, Nihal Hatipoglu, Ulku Gul, et al.

Pediatric Diabetes|June 4, 2021

Identification of GCK-maturity-onset diabetes of the young in cases of neonatal hyperglycemia: A case series and review of clinical featuresAlice E Hughes, Elisa De Franco, Evgenia Globa, et al.

Hormone Research in Paediatrics|January 26, 2021

Clinical Characteristics, Molecular Features, and Long-Term Follow-Up of 15 Patients with Neonatal Diabetes: A Single-Centre ExperienceZehra Yavas Abali, Elisa De Franco, Esin Karakilic Ozturan, et al.

Frontiers in Endocrinology|June 7, 2021

Case Report: Neonatal Diabetes Mellitus Caused by a Novel <i>GLIS3</i> Mutation in TwinsShira London, Elisa De Franco, Ghadir Elias-Assad, et al.

Clinical Genetics|July 20, 2022

A biallelic loss-of-function PDIA6 variant in a second patient with polycystic kidney disease, infancy-onset diabetes, and microcephalyElisa De Franco, Matthew N Wakeling, Russel D Frew, et al.

Plos Computational Biology|March 16, 2022

SavvyCNV: Genome-wide CNV calling from off-target readsThomas W Laver, Elisa De Franco, Matthew B Johnson, et al.

Nature Genetics|December 14, 2011

GATA6 haploinsufficiency causes pancreatic agenesis in humansHana Lango Allen, Sarah E Flanagan, Charles Shaw-Smith, et al.

Frontiers in Endocrinology|May 3, 2021

Case Report: Extended Clinical Spectrum of the Neonatal Diabetes With Congenital Hypothyroidism SyndromeVera Splittstoesser, Heike Vollbach, Michaela Plamper, et al.

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Showing results (21-30 of 94) with videos related to

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Journal of Clinical Research in Pediatric Endocrinology|September 26, 2017

Neonatal Diabetes: Two Cases with Isolated Pancreas Agenesis due to Homozygous PTF1A Enhancer Mutations and One with Developmental Delay, Epilepsy, and Neonatal Diabetes Syndrome due to KCNJ11 MutationOlcay Evliyaoğlu, Oya Ercan, Emel Ataoğlu, et al.

Journal of Pediatric Endocrinology & Metabolism : JPEM|November 13, 2020

Transient neonatal diabetes due to a disease causing novel variant in the ATP-binding cassette subfamily C member 8 (<i>ABCC8</i>) gene unmasks maturity-onset diabetes of the young (MODY) diabetes cases within a familyEleni Z Giannopoulou, Olga Ovcarov, Elisa De Franco, et al.

Pediatric Diabetes|March 10, 2018

Permanent neonatal diabetes mellitus and neurological abnormalities due to a novel homozygous missense mutation in NEUROD1Huseyin Demirbilek, Nihal Hatipoglu, Ulku Gul, et al.

Pediatric Diabetes|June 4, 2021

Identification of GCK-maturity-onset diabetes of the young in cases of neonatal hyperglycemia: A case series and review of clinical featuresAlice E Hughes, Elisa De Franco, Evgenia Globa, et al.

Hormone Research in Paediatrics|January 26, 2021

Clinical Characteristics, Molecular Features, and Long-Term Follow-Up of 15 Patients with Neonatal Diabetes: A Single-Centre ExperienceZehra Yavas Abali, Elisa De Franco, Esin Karakilic Ozturan, et al.

Frontiers in Endocrinology|June 7, 2021

Case Report: Neonatal Diabetes Mellitus Caused by a Novel <i>GLIS3</i> Mutation in TwinsShira London, Elisa De Franco, Ghadir Elias-Assad, et al.

Clinical Genetics|July 20, 2022

A biallelic loss-of-function PDIA6 variant in a second patient with polycystic kidney disease, infancy-onset diabetes, and microcephalyElisa De Franco, Matthew N Wakeling, Russel D Frew, et al.

Plos Computational Biology|March 16, 2022

SavvyCNV: Genome-wide CNV calling from off-target readsThomas W Laver, Elisa De Franco, Matthew B Johnson, et al.

Nature Genetics|December 14, 2011

GATA6 haploinsufficiency causes pancreatic agenesis in humansHana Lango Allen, Sarah E Flanagan, Charles Shaw-Smith, et al.

Frontiers in Endocrinology|May 3, 2021

Case Report: Extended Clinical Spectrum of the Neonatal Diabetes With Congenital Hypothyroidism SyndromeVera Splittstoesser, Heike Vollbach, Michaela Plamper, et al.

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