Mitochondrial diseases: advances and issues

JOURNAL ARTICLE published February 2017 in The Application of Clinical Genetics

Authors: Mauro Scarpelli | Alice Todeschini | Irene Volonghi | Alessandro Padovani | Massimiliano Filosto

Skeletal muscle SIRT1 and the genetics of metabolic health: therapeutic activation by pharmaceuticals and exercise

JOURNAL ARTICLE published August 2012 in The Application of Clinical Genetics

Authors: Brendon Gurd | Cameron Williams

<p>Spotlight on Warsaw Breakage Syndrome</p>

JOURNAL ARTICLE published December 2019 in The Application of Clinical Genetics

Authors: Francesca M Pisani

<p>Correlates of genetic attributions among parents of children in the USA with developmental disabilities</p>

JOURNAL ARTICLE published April 2019 in The Application of Clinical Genetics

Authors: Bridget Kiely | Sujit Vettam | Andrew Adesman

<p>Incidence of <em>HNF1A</em> and <em>GCK</em> MODY Variants in a South African Population</p>

JOURNAL ARTICLE published December 2020 in The Application of Clinical Genetics

Authors: Tandi E Matsha | Shanel Raghubeer | Abegail M Tshivhase | Saarah FG Davids | Gloudina M Hon | Lise Bjørkhaug | Rajiv T Erasmus

<p>Molybdenum Cofactor Deficiency: Mega Cisterna Magna in Two Consecutive Pregnancies and Review of the Literature</p>

JOURNAL ARTICLE published January 2020 in The Application of Clinical Genetics

Authors: MC Alonzo Martínez | E Cazorla | E Cánovas | K Anniuk | AE Cores | AM Serrano

Adeno-Associated Virus (AAV) - Based Gene Therapies for Retinal Diseases: Where are We?

JOURNAL ARTICLE published May 2023 in The Application of Clinical Genetics

Authors: Divya Ail | Hugo Malki | Emilia A Zin | Deniz Dalkara

Known Mutations at the Cause of Alpha-1 Antitrypsin Deficiency an Updated Overview of SERPINA1 Variation Spectrum

JOURNAL ARTICLE published March 2021 in The Application of Clinical Genetics

Authors: Susana Seixas | Patricia Isabel Marques

CTLA-4 CT-60 A/G and CTLA-4 1822 C/T Gene Polymorphisms in Indonesians with Type 1 Diabetes Mellitus

JOURNAL ARTICLE published April 2022 in The Application of Clinical Genetics

Authors: Nur Rochmah | Muhammad Faizi | Suhasta Nova | Retno Asih Setyoningrum | Sukmawati Basuki | Anang Endaryanto

Recent developments in the treatment of acute abdominal and facial attacks of hereditary angioedema: focus on human C1 esterase inhibitor

JOURNAL ARTICLE published December 2010 in The Application of Clinical Genetics

Authors: Lourdes Pasto-Cardona | Lourdes Pasto-Cardona

Proximal spinal muscular atrophy: current orthopedic perspective

JOURNAL ARTICLE published November 2013 in The Application of Clinical Genetics

Authors: Albert Fujak | Gerrit Haaker

PALB2 and breast cancer: ready for clinical translation!

JOURNAL ARTICLE published July 2013 in The Application of Clinical Genetics

Authors: Melissa Southey | Ingrid Winship

Genetic Testing in CYLD Cutaneous Syndrome: An Update

JOURNAL ARTICLE published October 2021 in The Application of Clinical Genetics

Authors: Nikoletta Nagy | Anna Dubois | Marta Szell | Neil Rajan

1p36 deletion syndrome: an update

JOURNAL ARTICLE published August 2015 in The Application of Clinical Genetics

Authors: Daryl Scott | Valerie Jordan | Hitsha Zaveri

Long Non-Coding RNAs ASB16-AS1 and AFAP1-AS1: Diagnostic, Prognostic Impact and Survival Analysis in Colorectal Cancer

JOURNAL ARTICLE published August 2022 in The Application of Clinical Genetics

Authors: Naglaa S Elabd | Shimaa E Soliman | Moamena S Elhamouly | Suzy F Gohar | Ayman Elgamal | Mahmoud Magdy Alabassy | Haitham A Soliman | Abdelnaser A Gadallah | Osama D Elbahr | Ghada Soliman | Amany A Saleh

Diagnostic and treatment strategies in mucopolysaccharidosis VI

JOURNAL ARTICLE published October 2015 in The Application of Clinical Genetics

Authors: Roberto Giugliani | Andressa Federhen | Filippo Vairo | Guilherme Baldo | Mariluce Riegel | Maira Burin | Sandra Leistner-Segal

<p>Multiple phenotypic domains of Fabry disease and their relevance for establishing genotype&ndash;phenotype correlations</p>

JOURNAL ARTICLE published March 2019 in The Application of Clinical Genetics

Authors: João Paulo Oliveira | Susana Ferreira

Genetics of tuberous sclerosis complex: implications for clinical practice

JOURNAL ARTICLE published December 2016 in The Application of Clinical Genetics

Authors: Carolina Caban | Nubaira Khan | Daphne Hasbani | Peter B Crino

The Role of Microglia in Inherited White-Matter Disorders and Connections to Frontotemporal Dementia

JOURNAL ARTICLE published March 2021 in The Application of Clinical Genetics

Authors: Daniel W Sirkis | Luke W Bonham | Jennifer S Yokoyama

Angelman syndrome: review of clinical and molecular aspects

JOURNAL ARTICLE published May 2014 in The Application of Clinical Genetics

Authors: Lynne Bird