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Brain, ISSN 0006-8950, 06/2015, Volume 138, Issue 6, pp. 1613 - 1628
Journal Article
Genetics in medicine : official journal of the American College of Medical Genetics, ISSN 1098-3600, 08/2019
Our laboratory has classified patients with methylmalonic aciduria using somatic cell studies for over four decades. We have accumulated 127 fibroblast lines... 
Journal Article
Nature Genetics, ISSN 1061-4036, 08/2012, Volume 44, Issue 8, pp. 934 - 940
Journal Article
Clinical Infectious Diseases, ISSN 1058-4838, 11/2019, Volume 69, Issue 11, pp. 2003 - 2010
Abstract Background Mycobacterium canettii forms part of the Mycobacterium tuberculosis complex. Mycobacterium canettii infections are mainly described in the... 
Journal Article
Journal of Child Neurology, ISSN 0883-0738, 10/2019, p. 88307381987891
The term spinocerebellar ataxia encompasses a heterogeneous group of neurodegenerative disorders due to pathogenic variants in more than 100 genes, underlying... 
Journal Article
Th.--Méd.--Paris, 1840. Voyez tome 15, page N ° 234. Paris, 1840. 
Dissertation
Th.--Méd.--Paris, 1830. Voyez tome 6, page N ° 193. Paris, 1830. 
Dissertation
Journal of Investigative Dermatology, ISSN 0022-202X, 04/2016, Volume 136, Issue 4, pp. 770 - 778
Journal Article
Pediatric Dermatology, ISSN 0736-8046, 11/2019, Volume 36, Issue 6, pp. 869 - 875
Background Cutaneous patterned hypopigmentation's phenotype is highly variable and may be associated with extracutaneous anomalies. Objective We evaluated the... 
hypopigmentation | genetics | hypomelanosis of Ito | mosaicism
Journal Article
Clinical Genetics, ISSN 0009-9163, 06/2016, Volume 89, Issue 6, pp. 700 - 707
Journal Article
Methods in Molecular Biology, ISSN 1064-3745, 2018, Volume 1865, pp. 233 - 241
Accessibility and imaging of cell compartments in big specimens are crucial for cellular biological research but also a matter of contention. Confocal imaging... 
Tissue clearing | Fructose-based high-refractive index solution | 3D imaging | Brain - metabolism | Head | Animals | Xenopus laevis - embryology | Larva | Xenopus laevis - metabolism | Imaging, Three-Dimensional - methods | Fluorescent Dyes - metabolism | Pigmentation | Triiodothyronine - pharmacology
Journal Article
European Journal of Preventive Cardiology, ISSN 2047-4873, 8/2019, Volume 26, Issue 12, pp. 1262 - 1270
Aims Familial hypercholesterolemia (FH) is the most common genetic disorder in medicine, with a prevalence of 1/250. Affected individuals have elevated... 
atherosclerotic cardiovascular disease | Familial hypercholesterolemia | genetic testing | low-density lipoprotein | PANEL | CARDIAC & CARDIOVASCULAR SYSTEMS | SOCIETY POSITION STATEMENT | CLINICIAN | GUIDANCE | LDL CHOLESTEROL | DISEASE | RECEPTOR GENE | MUTATIONS | INSIGHTS
Journal Article