Genetics of inherited primary arrhythmia disorders

JOURNAL ARTICLE published September 2015 in The Application of Clinical Genetics

Authors: Michael Gollob | Danna Spears

<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

The Application of Clinical Genetics

JOURNAL ARTICLE published February 2012 in The Application of Clinical Genetics

Authors: Martin Maurer

Evaluating the Frequencies of CNOT3, GRIA1, NFATC2, and PNPLA3 Variant Alleles and Their Association with L-Asparaginase Hypersensitivity in Pediatric Acute Lymphoblastic Leukemia in Addis Ababa, Ethiopia

JOURNAL ARTICLE published August 2023 in The Application of Clinical Genetics

Authors: Awol Mekonnen Ali | Haileyesus Adam | Daniel Hailu | Rawleigh Howe | Teferra Abula | Marieke JH Coenen

Novel treatment options for lysosomal acid lipase deficiency: critical appraisal of sebelipase alfa

JOURNAL ARTICLE published October 2016 in The Application of Clinical Genetics

Authors: Kim Su | Emma Donaldson | Reena Sharma

<p>c.259A&gt;C in the fibrinogen gene of alpha chain (<em>FGA</em>) is a fibrinogen with thrombotic phenotype</p>

JOURNAL ARTICLE published February 2019 in The Application of Clinical Genetics

Authors: Ophira Salomon | Ortal Barel | Eran Eyal | Reut Shnerb Ganor | Yeroham Kleinbaum | Mordechai Shohat

<p>Genetic Analysis Of <em>ABCA1 </em>Gene Of Primary Glaucoma In Jordanian Arab Population</p>

JOURNAL ARTICLE published October 2019 in The Application of Clinical Genetics

Authors: Rami Alkhatib | Nada Abudhaim | Laith AL-Eitan | Nour Abdo | Asem Alqudah | Hatem Aman

Overview of the genetic determinants of primary aldosteronism

JOURNAL ARTICLE published April 2014 in The Application of Clinical Genetics

Authors: Abdallah Al-Salameh | Regis Cohen | Rachel Desailloud

Psychogenetics of post-traumatic stress disorder: a short review

JOURNAL ARTICLE published November 2010 in The Application of Clinical Genetics

Authors: Ahmed Rady

Pseudo-Meigs’ Syndrome in Tunisian H Syndrome Female Patient: First Case Reported

JOURNAL ARTICLE published April 2021 in The Application of Clinical Genetics

Authors: Yosra Zaimi | Myriam Ayari | Asma Mensi | Linda Bel Hadj Kacem | Leila Achouri | Meriem Bouzrara | Yosra Said | Leila Mouelhi | Radhouane Debbeche

<p>Metabolic Syndrome as a Risk Factor for Sensorineural Hearing Loss in Adult Patients with Turner Syndrome</p>

JOURNAL ARTICLE published January 2020 in The Application of Clinical Genetics

Authors: Francisco Álvarez-Nava | Marcia Racines-Orbe | Julia Witt | Jessica Guarderas | Yosselin Vicuña | María Estévez | Roberto Lanes

<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

<p>Two novel variants in the&nbsp;<em>TCF12</em>&nbsp;gene identified in cases with craniosynostosis</p>

JOURNAL ARTICLE published February 2019 in The Application of Clinical Genetics

Authors: Athanasios Goumenos | Eirini Tsoutsou | Joanne Traeger-Synodinos | Dimitrios Petychakis | Maria Gavra | Aggeliki Kolialexi | Helena Frysira

RASopathy Cohort of Patients Enrolled in a Brazilian Reference Center for Rare Diseases: A Novel Familial LZTR1 Variant and Recurrent Mutations

JOURNAL ARTICLE published October 2022 in The Application of Clinical Genetics

Authors: Natana Chaves Rabelo | Maria Eduarda Gomes | Isabelle de Oliveira Moraes | Juliana Cantagalli Pfisterer | Guilherme Loss de Morais | Deborah Antunes | Ernesto Raúl Caffarena | Juan Llerena Jr | Sayonara Gonzalez

Gene therapy for the treatment of cystic fibrosis

JOURNAL ARTICLE published May 2012 in The Application of Clinical Genetics

Authors: Jane Davies | Eric Alton

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

Proximal spinal muscular atrophy: current orthopedic perspective

JOURNAL ARTICLE published November 2013 in The Application of Clinical Genetics

Authors: Albert Fujak | Gerrit Haaker

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