You are here
- Home
- neonatal diseases
neonatal diseases
- Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndromeMarco Angelozzi, Anirudha Karvande, Arnaud N Molin, Alyssa L Ritter, Jacqueline M M Leonard, Juliann M Savatt, Kristen Douglass, Scott M Myers, Mina Grippa, Dara Tolchin, Elaine Zackai, Sarah Donoghue, Anna C E Hurst, Maria Descartes, Kirstin Smith, Danita Velasco, Andrew Schmanski, Amy Crunk, Mari J Tokita, Iris M de Lange, Koen van Gassen, Hannah Robinson, Katie Guegan, Mohnish Suri, Chirag Patel, Marie Bournez, Laurence Faivre, Frédéric Tran-Mau-Them, Janice Baker, Noelle Fabie, K Weaver, Amelle Shillington, Robert J Hopkin, Daniela Q C.M Barge-Schaapveld, Claudia AL Ruivenkamp, Regina Bökenkamp, Samantha Vergano, Maria Noelia Seco Moro, Aranzazu Díaz de Bustamante, Vinod K Misra, Kelly Kennelly, Caleb Rogers, Jennifer Friedman, Kristen M Wigby, Jerica Lenberg, Claudio Graziano, Rebecca C Ahrens-Nicklas, Veronique LefebvreJournal of Medical Genetics Nov 2022, 59 (11) 1058-1068; DOI: 10.1136/jmedgenet-2021-108375
- CLINICAL
- Cardiovascular medicine
- Arrhythmias (33)
- Cardiomyopathy (95)
- Hypertension (63)
- Valvar diseases (32)
- Dermatology (272)
- Diagnostics
- Endocrinology
- Calcium and bone (344)
- Diabetes (113)
- Drugs: endocrine system (125)
- Lipid disorders (34)
- Metabolic disorders (386)
- Pituitary disorders (13)
- Thyroid disease (24)
- Evidence based practice
- Gastroenterology
- Liver disease (56)
- Oesophagus (32)
- Pancreatitis (14)
- Small intestine
- Coeliac disease (15)
- Stomach and duodenum (16)
- Genetics
- Clinical genetics (289)
- Cytogenetics (26)
- Molecular genetics (1454)
- Infectious diseases
- Emerging infectious diseases
- Meningitis (3)
- Otitis (13)
- Travel medicine (4)
- Neurology
- Cerebral palsy (5)
- Dementia (35)
- Epilepsy and seizures (236)
- Hydrocephalus (19)
- Multiple sclerosis (25)
- Muscle disease (176)
- Neuromuscular disease (301)
- Neurooncology (89)
- Parkinson's disease (22)
- Peripheral nerve disease (106)
- Nutrition and metabolism
- Obesity (nutrition) (74)
- Obstetrics and gynaecology
- Reproductive medicine (586)
- Oncology
- Breast cancer (276)
- CNS cancer (53)
- Colon cancer (147)
- Endocrine cancer (65)
- Gene therapy (3)
- Hepatic cancer (9)
- Paediatric oncology (140)
- Prevention (6)
- Prostate cancer (29)
- Screening (oncology) (268)
- Urological cancer (79)
- Ophthalmology
- Eye Diseases (351)
- Glaucoma (22)
- Hereditary eye disease (103)
- Psychiatry
- Rehabilitation medicine
- Respiratory medicine
- Asthma (25)
- Cystic fibrosis (44)
- Rheumatology
- Osteoarthritis (13)
- Osteoporosis (19)
- Rheumatoid arthritis (18)
- Vascularitis (3)
- Surgery (120)
- NON-CLINICAL
- Epidemiology (722)
- Ethics (232)
- Special collections
- Editor's choice (125)
- Open access (324)
- Press releases (5)