Articles

Clinical Variability of SYNJ1-Associated Early-Onset Parkinsonism

in Neurogenetics

• Suzanne Lesage
• Graziella Mangone
• Christelle Tesson
• Hélène Bertrand
• Mustapha Benmahdjoub
• Selma Kesraoui
• Mohamed Arezki
• Andrew Singleton
• Jean-Christophe Corvol
• Alexis Brice

Stereotypies in autism: a video demonstration of their clinical variability

• Sylvie Goldman
• Paul E. Greene

Editorial: Glucosinolate Metabolites: Bioavailability, Bioactivity and Clinical Variability

in Nutritional Epidemiology

• Donato Angelino
• Elizabeth H. Jeffery

The Mutations and Clinical Variability in Maternally Inherited Diabetes and Deafness: An Analysis of 161 Patients

in Clinical Diabetes

• Mengge Yang
• Lusi Xu
• Chunmei Xu
• Yuying Cui
• Shan Jiang
• Jianjun Dong
• Lin Liao

Alström syndrome—wide clinical variability within the same variant: a case report and literature review

in Genetics of Common and Rare Diseases

• Diana Jecan-Toader
• Adrian Trifa
• Bogdan Lucian
• Tudor Lucian Pop
• Simona Sorana Cainap

Clinical variability in complementary feeding counseling in Türkiye: results from a pediatrician survey

in Pediatric Gastroenterology, Hepatology and Nutrition

• Nalan Karabayır
• Demet Deniz Bilgin
• Mine Başıbüyük
• Övgü Büke

Commentary: The mutations and clinical variability in maternally inherited diabetes and deafness: an analysis of 161 patients

in Clinical Diabetes

• Ivo P. van de Peppel
• Serwet Demirdas
• Behiye Özcan

Deletion Extents Are Not the Cause of Clinical Variability in 22q11.2 Deletion Syndrome: Does the Interaction between DGCR8 and miRNA-CNVs Play a Major Role?

in Genetics of Common and Rare Diseases

• Veronica Bertini
• Alessia Azzarà
• Annalisa Legitimo
• Roberta Milone
• Roberta Battini
• Rita Consolini
• Angelo Valetto

Case report: VEXAS syndrome: first documented cases in Latin America

in Blood Cancer

• Carolina Ottati
• Inés Gervaz
• Martín Yandian
• Matilde Boada
• Gabriela Vidal-Senmache
• Percy Ortiz-Guerra
• Ana I. Catalán
• Patricia Kutscher
• Diego Lopez
• Lilian Diaz

Case report: Complex arterial findings in vascular ehlers-danlos syndrome with a novel COL3A1 variant and death at young age

in Cardiovascular Genetics and Systems Medicine

• Jacopo Taurino
• Emanuele Micaglio
• Annalisa Russo Raucci
• Monica Zanussi
• Massimo Chessa
• Nathasha Samali Udugampolage
• Paola Carrera
• Carlo Pappone
• Alessandro Pini

A genotype–phenotype correlation in split-hand/foot malformation type 1: further refinement of the phenotypic subregions within the 7q21.3 locus

in Genome Organization and Dynamics

• Anna Sowińska-Seidler
• Magdalena Socha
• Anna Szoszkiewicz
• Anna Materna-Kiryluk
• Aleksander Jamsheer

New insights into the pathogenesis of pseudoxanthoma elasticum and related soft tissue calcification disorders by identifying genetic interactions and modifiers

in Systems Biology Archive

• Doris Hendig
• Cornelius Knabbe
• Christian Götting

Pheochromocytomas and Paragangliomas as Causes of Endocrine Hypertension

in Molecular and Structural Endocrinology

• Letizia Canu
• Gabriele Parenti
• Giuseppina De Filpo
• Massimo Mannelli

Novel variant alters splicing of TGFB2 in family with features of Loeys-Dietz syndrome

in Genetics of Common and Rare Diseases

• Emily R. Gordon
• Stephanie A. Felker
• Tanner F. Coleman
• Nadiya Sosonkina
• Jada Pugh
• Meagan E. Cochran
• Anna C. E. Hurst
• Sara J. Cooper

Lipids in the Physiopathology of Hereditary Spastic Paraplegias

in Neurodegeneration

• Frédéric Darios
• Fanny Mochel
• Giovanni Stevanin

Deletion of chr7p22 and chr15q11: Two Familial Cases of Immune Deficiency: Extending the Phenotype Toward Dysimmunity

in Primary Immunodeficiencies

• Natacha Sloboda
• Arthur Sorlin
• Mylène Valduga
• Mylène Beri-Dexheimer
• Claire Bilbault
• Fanny Fouyssac
• Aurélie Becker
• Laëtitia Lambert
• Céline Bonnet
• Bruno Leheup