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Pediatric Neurology, ISSN 0887-8994, 2017
Abstract Objective Pyridoxine is converted to its biologically active form, pyridoxal-5-phosphate (P5P) by the enzyme pyridox(am)ine oxidase (PNPO), and serves... 
Pediatrics | Neurology
Journal Article
JAMA Neurology, ISSN 2168-6149, 11/2014, Volume 71, Issue 11, p. 1413
  Newer sequencing technologies in combination with traditional gene mapping techniques, such as linkage analysis, can help identify the genetic basis of... 
Polymerase chain reaction | Genotype & phenotype | Neuromuscular diseases | Families & family life | Mutation | Deoxyribonucleic acid--DNA
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 08/2014, Volume 95, Issue 2, p. 218
  Centronuclear myopathies (CNMs) are characterized by muscle weakness and increased numbers of central nuclei within myofibers. X-linked myotubular myopathy,... 
Proteins | Human subjects | Yeast | Cardiomyopathy | Mutation | Kinases
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 08/2012, Volume 91, Issue 2, p. 365
Congenital myopathies are clinically and genetically heterogeneous diseases that typically present in childhood with hypotonia and weakness and are most... 
Proteins | Genetic disorders | Biopsy | Zebrafish | Mutation | Gene expression
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 08/2014, Volume 95, Issue 2, pp. 218 - 226
Journal Article
Journal of the American Academy of Dermatology, ISSN 0190-9622, 09/2019, Volume 81, Issue 3, pp. 867 - 877
Journal Article
by Meng, DH and Li, QF and Hu, XH and Wang, LF and Tan, SY and Su, JS and Zhang, Y and Sun, WJ and Chen, BY and He, S and Lin, F and Xie, BB and Chen, SK and Agrawal, PB and Luo, SY and Fu, CY
SCIENTIFIC REPORTS, ISSN 2045-2322, 07/2019, Volume 9, Issue 1, pp. 10726 - 6
Non-immune hydrops fetalis (NIHF) is a complex condition with a high mortality and morbidity rate. Here we report the etiology and outcome of 1004 fetuses with... 
2ND TRIMESTER | MUTATIONS | GESTATIONAL-AGE | PLACENTAL THICKNESS | MULTIDISCIPLINARY SCIENCES | PREGNANCY | Edema | Neonates | Fetuses | Mortality | Survival | Morbidity | Pregnancy | Etiology | Hydrops fetalis | Medical prognosis | Birth weight | Blood diseases | Health risk assessment
Journal Article
Pediatrics, ISSN 0031-4005, 02/2017, Volume 139, Issue 2, p. e20162252
Journal Article
by Küry, Sébastien and van Woerden, Geeske M and Besnard, Thomas and Proietti Onori, Martina and Latypova, Xénia and Towne, Meghan C and Cho, Megan T and Prescott, Trine E and Ploeg, Melissa A and Sanders, Stephan and Stessman, Holly A.F and Pujol, Aurora and Distel, Ben and Robak, Laurie A and Bernstein, Jonathan A and Denommé-Pichon, Anne-Sophie and Lesca, Gaëtan and Sellars, Elizabeth A and Berg, Jonathan and Carré, Wilfrid and Busk, Øyvind Løvold and van Bon, Bregje W.M and Waugh, Jeff L and Deardorff, Matthew and Hoganson, George E and Bosanko, Katherine B and Johnson, Diana S and Dabir, Tabib and Holla, Øystein Lunde and Sarkar, Ajoy and Tveten, Kristian and de Bellescize, Julitta and Braathen, Geir J and Terhal, Paulien A and Grange, Dorothy K and van Haeringen, Arie and Lam, Christina and Mirzaa, Ghayda and Burton, Jennifer and Bhoj, Elizabeth J and Douglas, Jessica and Santani, Avni B and Nesbitt, Addie I and Helbig, Katherine L and Andrews, Marisa V and Begtrup, Amber and Tang, Sha and van Gassen, Koen L.I and Juusola, Jane and Foss, Kimberly and Enns, Gregory M and Moog, Ute and Hinderhofer, Katrin and Paramasivam, Nagarajan and Lincoln, Sharyn and Kusako, Brandon H and Lindenbaum, Pierre and Charpentier, Eric and Nowak, Catherine B and Cherot, Elouan and Simonet, Thomas and Ruivenkamp, Claudia A.L and Hahn, Sihoun and Brownstein, Catherine A and Xia, Fan and Schmitt, Sébastien and Deb, Wallid and Bonneau, Dominique and Nizon, Mathilde and Quinquis, Delphine and Chelly, Jamel and Rudolf, Gabrielle and Sanlaville, Damien and Parent, Philippe and Gilbert-Dussardier, Brigitte and Toutain, Annick and Sutton, Vernon R and Thies, Jenny and Peart-Vissers, Lisenka E.L.M and Boisseau, Pierre and Vincent, Marie and Grabrucker, Andreas M and Dubourg, Christèle and Tan, Wen-Hann and Verbeek, Nienke E and Granzow, Martin and Santen, Gijs W.E and Shendure, Jay and Isidor, Bertrand and Pasquier, Laurent and Redon, Richard and Yang, Yaping and State, Matthew W and Kleefstra, Tjitske and Cogné, Benjamin and Petrovski, Slavé and Retterer, Kyle and Eichler, Evan E and Rosenfeld, Jill A and Agrawal, Pankaj B and ... and Deciphering Dev Dis Study and Undiagnosed Dis Network and GEM HUGO and Deciphering Developmental Disorders Study and Undiagnosed Diseases Network
The American Journal of Human Genetics, ISSN 0002-9297, 11/2017, Volume 101, Issue 5, pp. 768 - 788
Journal Article