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by Schartner, Vanessa and Schartner, Vanessa and Romero, Norma B and Romero, Norma B and Donkervoort, Sandra and Donkervoort, Sandra and Treves, Susan and Treves, Susan and Munot, Pinki and Munot, Pinki and Pierson, Tyler Mark and Pierson, Tyler Mark and Dabaj, Ivana and Dabaj, Ivana and Malfatti, Edoardo and Malfatti, Edoardo and Zaharieva, Irina T and Zaharieva, Irina T and Zorzato, Francesco and Zorzato, Francesco and Abath Neto, Osorio and Abath Neto, Osorio and Brochier, Guy and Brochier, Guy and Lornage, Xavière and Lornage, Xavière and Eymard, Bruno and Eymard, Bruno and Taratuto, Ana Lía and Taratuto, Ana Lía and Böhm, Johann and Böhm, Johann and Gonorazky, Hernan and Gonorazky, Hernan and Ramos-Platt, Leigh and Ramos-Platt, Leigh and Feng, Lucy and Feng, Lucy and Phadke, Rahul and Phadke, Rahul and Bharucha-Goebel, Diana X and Bharucha-Goebel, Diana X and Sumner, Charlotte Jane and Sumner, Charlotte Jane and Bui, Mai Thao and Bui, Mai Thao and Lacene, Emmanuelle and Lacene, Emmanuelle and Beuvin, Maud and Beuvin, Maud and Labasse, Clémence and Labasse, Clémence and Dondaine, Nicolas and Dondaine, Nicolas and Schneider, Raphael and Schneider, Raphael and Thompson, Julie and Thompson, Julie and Boland, Anne and Boland, Anne and Deleuze, Jean-François and Deleuze, Jean-François and Matthews, Emma and Matthews, Emma and Pakleza, Aleksandra Nadaj and Pakleza, Aleksandra Nadaj and Sewry, Caroline A and Sewry, Caroline A and Biancalana, Valérie and Biancalana, Valérie and Quijano-Roy, Susana and Quijano-Roy, Susana and Muntoni, Francesco and Muntoni, Francesco and Fardeau, Michel and Fardeau, Michel and Bönnemann, Carsten G and Bönnemann, Carsten G and Laporte, Jocelyn and Laporte, Jocelyn
Acta Neuropathologica, ISSN 0001-6322, 4/2017, Volume 133, Issue 4, pp. 517 - 533
Journal Article
The Journal of Clinical Endocrinology & Metabolism, ISSN 0021-972X, 02/2015, Volume 100, Issue 2, pp. E333 - E344
Context: Disorders of sex development (DSD) are clinical conditions where there is a discrepancy between the chromosomal sex and the phenotypic (gonadal or... 
PROTEIN | GENE | ENDOCRINOLOGY & METABOLISM | GERMLINE MUTATIONS | MALE PSEUDOHERMAPHRODITISM | IMPLICATE | STEROIDOGENIC FACTOR-I | REVERSAL | Exome | 46, XY Disorders of Sex Development - genetics | Phenotype | 46, XY Disorders of Sex Development - diagnosis | Humans | Male | Genetic Testing - methods | Advances in Genetics | JCEM Online
Journal Article
JACC (Journal of the American College of Cardiology), ISSN 0735-1097, 2014, Volume 63, Issue 12, pp. A838 - A838
Journal Article
Annals of Indian Academy of Neurology, ISSN 0972-2327, 07/2015, Volume 18, Issue 3, pp. 327 - 330
Journal Article
Journal Article
Journal Article
Bone, ISSN 8756-3282, 10/2019, Volume 127, pp. 215 - 219
There have been new advances in understanding bone remodeling on a molecular level including the RANKL-OPG pathway, leading to advancements in targeted... 
Pediatric osteoporosis | Puberty | Obesity | RANK ligand | OPG | SERUM OSTEOPROTEGERIN | TURNOVER | BONE-MINERAL DENSITY | BIOCHEMICAL MARKERS | DENOSUMAB | ALENDRONATE | HORMONE | ENDOCRINOLOGY & METABOLISM | RECEPTOR ACTIVATOR | POSTMENOPAUSAL WOMEN | OBESE | Chronic diseases | Osteoporosis | Children | Pediatric clinics | Analysis
Journal Article
Thyroid, ISSN 1050-7256, 03/2020, Volume 30, Issue 3, pp. 463 - 465
Mutations in the cell membrane thyroid hormone (TH) transporter monocarboxylate transporter (MCT) 8 produce severe neuropsychomotor defects and characteristic... 
Brief Report On Novel Mutations Associated With Inherited Thyroid Disorders | Allan-Herndon-Dudley syndrome | TRANSPORTER | thyroid hormone transporter | ENDOCRINOLOGY & METABOLISM | MUTATIONS | variants of unknown significance | MCT8 | whole exome sequencing
Journal Article
05/2011, Volume 27, Issue 5-6, 2
  Besides a clot that forms in a vessel and causes occlusion, occlusion from a piece of clot that is somewhere else that travels can also cause strokes. [...]... 
Stroke (Disease) | Care and treatment | Children | Demographic aspects | Risk factors | Diseases | Stroke | Emergency medical care | Sickle cell anemia | Children & youth
Newsletter
JAMA Ophthalmology, ISSN 2168-6165, 12/2013, Volume 131, Issue 12, p. 1532
Journal Article
JAMA Ophthalmology, ISSN 2168-6165, 12/2013, Volume 131, Issue 12, p. 1532
  Total ophthalmoplegia can result from ryanodine receptor 1 (RYR1) mutations without overt associated skeletal myopathy. Patients carrying RYR1 mutations are... 
Risk assessment | Amino acids | Eye diseases | Ophthalmology | Mutation | Fever | Children & youth
Journal Article
01/2012
Clinical Cases in Pediatric Peripheral Neuropathy 
Neurology | Medical
Book Chapter
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