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Genetics in Medicine (5)
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Research (13)

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Showing 1–13 of 13 results

Advanced filters: Author: Arnaud Wiedemann Clear advanced filters

Improving the thermoelectric performance of scandium nitride thin films by implanting helium ions

Ion implantation is a widely used technique to add defects into low dimensional materials to tune their properties. Here, the thermoelectric properties of scandium nitride films were improved by implanting helium ions

Hugo Bouteiller
Razvan Burcea
Jean-François Barbot
ResearchOpen Access15 Feb 2025
Communications Materials

Volume: 6, P: 1-11
Cryopreserved embryo replacement is associated with higher birthweight compared with fresh embryo: multicentric sibling embryo cohort study

Margaux Anav
Simon Phillips
Samir Hamamah
ResearchOpen Access16 Sept 2019
Scientific Reports

Volume: 9, P: 1-7
Characteristics and outcome of synchronous bilateral Wilms tumour in the SIOP WT 2001 Study: Report from the SIOP Renal Tumour Study Group (SIOP-RTSG)

Hélène Sudour-Bonnange
Harm van Tinteren
Rhoikos Furtwängler
Research30 Jul 2024
British Journal of Cancer

Volume: 131, P: 972-981
Mutations in MTHFR and POLG impaired activity of the mitochondrial respiratory chain in 46-year-old twins with spastic paraparesis

Arnaud Wiedemann
Céline Chery
Abderrahim Oussalah
Research23 Oct 2019
Journal of Human Genetics

Volume: 65, P: 91-98
Exploration for olive fruit fly parasitoids across Africa reveals regional distributions and dominance of closely associated parasitoids

Xingeng Wang
Vaughn M. Walton
Kent M. Daane
ResearchOpen Access17 Mar 2021
Scientific Reports

Volume: 11, P: 1-14
Treatment of ARS deficiencies with specific amino acids

Gautam Kok
Laura Tseng
Sabine A. Fuchs
Research30 Jun 2021
Genetics in Medicine

Volume: 23, P: 2202-2207
Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder

Jérémie Courraud
Eric Chater-Diehl
Amélie Piton
Research03 Aug 2021
Genetics in Medicine

Volume: 23, P: 2150-2159
High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families

Mehdi Benkirane
Cecilia Marelli
Michel Koenig
Research07 Jul 2021
Genetics in Medicine

Volume: 23, P: 2160-2170
Blood phenylalanine fluctuation in phenylketonuric children treated by BH4 or low-phenylalanine diet from birth

Maurane Theron
Elise Jeannesson
Arnaud Wiedemann
ResearchOpen Access12 Jun 2023
Scientific Reports

Volume: 13, P: 1-8
Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome

Thomas Besnard
Natacha Sloboda
Bertrand Isidor
Research06 Feb 2019
Genetics in Medicine

Volume: 21, P: 2025-2035
Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients

Christian Staufner
Bianca Peters
Dominic Lenz
Research25 Nov 2019
Genetics in Medicine

Volume: 22, P: 610-621
At-admission prediction of mortality and pulmonary embolism in an international cohort of hospitalised patients with COVID-19 using statistical and machine learning methods

Munib Mesinovic
Xin Ci Wong
David Zucman
ResearchOpen Access16 Jul 2024
Scientific Reports

Volume: 14, P: 1-43
ISARIC-COVID-19 dataset: A Prospective, Standardized, Global Dataset of Patients Hospitalized with COVID-19

Ali Abbas
Sheryl Ann Abdukahil
Luis Felipe Reyes
ResearchOpen Access30 Jul 2022
Scientific Data

Volume: 9, P: 1-22

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Improving the thermoelectric performance of scandium nitride thin films by implanting helium ions

Cryopreserved embryo replacement is associated with higher birthweight compared with fresh embryo: multicentric sibling embryo cohort study

Characteristics and outcome of synchronous bilateral Wilms tumour in the SIOP WT 2001 Study: Report from the SIOP Renal Tumour Study Group (SIOP-RTSG)

Mutations in MTHFR and POLG impaired activity of the mitochondrial respiratory chain in 46-year-old twins with spastic paraparesis

Exploration for olive fruit fly parasitoids across Africa reveals regional distributions and dominance of closely associated parasitoids

Treatment of ARS deficiencies with specific amino acids

Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder

High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families

Blood phenylalanine fluctuation in phenylketonuric children treated by BH4 or low-phenylalanine diet from birth

Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome

Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients

At-admission prediction of mortality and pulmonary embolism in an international cohort of hospitalised patients with COVID-19 using statistical and machine learning methods

ISARIC-COVID-19 dataset: A Prospective, Standardized, Global Dataset of Patients Hospitalized with COVID-19

Search

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