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Pediatric Neurology, ISSN 0887-8994, 02/2018, Volume 79, pp. 61 - 64
Patients with autism spectrum disorder and developmental delay or encephalopathy rarely demonstrate no or negligible hair and nail growth, suggesting a... 
ATP1A2 gene | hemiplegic migraine | Autism spectrum disorder | biotin | MUTATION | CACNA1A | PEDIATRICS | ATP1A2 | EPILEPSY | DEFICIENCY | CLINICAL NEUROLOGY | Autism | Medical colleges | Growth | Migraine | Acetazolamide | Development and progression | Biotin
Journal Article
by Hamdan, Fadi F and Myers, Candace T and Cossette, Patrick and Lemay, Philippe and Spiegelman, Dan and Laporte, Alexandre Dionne and Nassif, Christina and Diallo, Ousmane and Monlong, Jean and Cadieux-Dion, Maxime and Dobrzeniecka, Sylvia and Meloche, Caroline and Retterer, Kyle and Cho, Megan T and Rosenfeld, Jill A and Bi, Weimin and Massicotte, Christine and Miguet, Marguerite and Brunga, Ledia and Regan, Brigid M and Mo, Kelly and Tam, Cory and Schneider, Amy and Hollingsworth, Georgie and FitzPatrick, David R and Donaldson, Alan and Canham, Natalie and Blair, Edward and Kerr, Bronwyn and Fry, Andrew E and Thomas, Rhys H and Shelagh, Joss and Hurst, Jane A and Brittain, Helen and Blyth, Moira and Lebel, Robert Roger and Gerkes, Erica H and Davis-Keppen, Laura and Stein, Quinn and Chung, Wendy K and Dorison, Sara J and Benke, Paul J and Fassi, Emily and Corsten-Janssen, Nicole and Kamsteeg, Erik-Jan and Mau-Them, Frederic T and Bruel, Ange-Line and Verloes, Alain and Õunap, Katrin and Wojcik, Monica H and Albert, Dara V.F and Venkateswaran, Sunita and Ware, Tyson and Jones, Dean and Liu, Yu-Chi and Mohammad, Shekeeb S and Bizargity, Peyman and Bacino, Carlos A and Leuzzi, Vincenzo and Martinelli, Simone and Dallapiccola, Bruno and Tartaglia, Marco and Blumkin, Lubov and Wierenga, Klaas J and Purcarin, Gabriela and O’Byrne, James J and Stockler, Sylvia and Lehman, Anna and Keren, Boris and Nougues, Marie-Christine and Mignot, Cyril and Auvin, Stéphane and Nava, Caroline and Hiatt, Susan M and Bebin, Martina and Shao, Yunru and Scaglia, Fernando and Lalani, Seema R and Frye, Richard E and Jarjour, Imad T and Jacques, Stéphanie and Boucher, Renee-Myriam and Riou, Emilie and Srour, Myriam and Carmant, Lionel and Lortie, Anne and Major, Philippe and Diadori, Paola and Dubeau, François and D’Anjou, Guy and Bourque, Guillaume and Berkovic, Samuel F and Sadleir, Lynette G and Campeau, Philippe M and Kibar, Zoha and Lafrenière, Ronald G and Girard, Simon L and Mercimek-Mahmutoglu, Saadet and Boelman, Cyrus and Rouleau, Guy A and ... and Deciphering Dev Disorders Study and Deciphering Developmental Disorders Study
The American Journal of Human Genetics, ISSN 0002-9297, 11/2017, Volume 101, Issue 5, pp. 664 - 685
Journal Article
Journal of the Academy of Nutrition and Dietetics, ISSN 2212-2672, 2013, Volume 113, Issue 9, pp. A95 - A95
Journal Article
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 06/2019, Volume 380, Issue 25, pp. 2478 - 2480
As knowledge about genetic causes of disease improves, periodic reanalysis of clinical exome sequence could yield new genetic information. This study showed... 
MEDICINE, GENERAL & INTERNAL | Genetic counseling | Laboratories | Patients | Genomics
Journal Article
NEUROPSYCHOPHARMACOLOGY, ISSN 0893-133X, 01/2014, Volume 39, Issue 2, pp. 477 - 487
Drugs that enhance GABAergic inhibition alleviate inflammatory and neuropathic pain after spinal application. This antihyperalgesia occurs mainly through... 
SUBTYPE | ANXIOLYTIC PROPERTIES | DIAZEPAM | mouse model | RAT | PSYCHIATRY | analgesia | BENZODIAZEPINES | NEUROSCIENCES | neuropathic pain | SUBUNIT MESSENGER-RNAS | PAIN | INDUCED HYPERALGESIA | PHARMACOLOGY | GABA | NEURONS | PHARMACOLOGY & PHARMACY | spinal cord | benzodiazepine
Journal Article
Journal of Nutrition Education and Behavior, ISSN 1499-4046, 07/2012, Volume 44, Issue 4, pp. S91 - S91
Journal Article
Journal of Clinical Pathology, ISSN 0003-4967, 08/2018, Volume 55, Issue 8, p. 561
Reactive oxygen species play an important role in a variety of (patho)physiological vascular processes. Recent publications have produced evidence of a role... 
Journal Article
Journal of Child Neurology, ISSN 0883-0738, 5/2017, Volume 32, Issue 6, pp. 543 - 549
Serine biosynthesis defects can present in a broad phenotypic spectrum ranging from Neu-Laxova syndrome, a lethal disease with multiple congenital anomalies at... 
microcephaly | seizures | spasticity | Neu-Laxova syndrome | PGDH | INTELLECTUAL DISABILITY | DISORDERS | PEDIATRICS | NEU-LAXOVA-SYNDROME | 3-PHOSPHOGLYCERATE | CHILD | CLINICAL NEUROLOGY | Limb Deformities, Congenital - genetics | Abnormalities, Multiple - etiology | Fetal Growth Retardation - diagnostic imaging | Microcephaly - genetics | Seizures - genetics | Ichthyosis - etiology | Humans | Brain Diseases - genetics | Carbohydrate Metabolism, Inborn Errors - complications | Child, Preschool | Limb Deformities, Congenital - therapy | Family Health | Fetal Growth Retardation - genetics | Infant | Male | Psychomotor Disorders - complications | Serine - biosynthesis | Carbohydrate Metabolism, Inborn Errors - genetics | Seizures - complications | Seizures - diagnostic imaging | Young Adult | Psychomotor Disorders - genetics | Ichthyosis - diagnostic imaging | Brain Diseases - therapy | Fetal Growth Retardation - etiology | Ichthyosis - genetics | Female | Microcephaly - therapy | Brain Diseases - etiology | Carbohydrate Metabolism, Inborn Errors - diagnostic imaging | Psychomotor Disorders - diagnostic imaging | Abnormalities, Multiple - genetics | Microcephaly - complications | Abnormalities, Multiple - diagnostic imaging | Brain Diseases - diagnostic imaging | Microcephaly - diagnostic imaging | Mutation - genetics | Fetal Growth Retardation - therapy | Phosphoglycerate Dehydrogenase - genetics | Phenotype | Abnormalities, Multiple - therapy | Limb Deformities, Congenital - etiology | Adolescent | Limb Deformities, Congenital - diagnostic imaging | Microcephaly - etiology | Phosphoglycerate Dehydrogenase - deficiency | Ichthyosis - therapy
Journal Article
Journal of child neurology, ISSN 0883-0738, 2017, Volume 32, Issue 6, p. 543
Serine biosynthesis defects can present in a broad phenotypic spectrum ranging from Neu-Laxova syndrome, a lethal disease with multiple congenital anomalies at... 
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 03/2018, Volume 123, Issue 3, pp. 309 - 316
Journal Article
Molecular Genetics & Genomic Medicine, ISSN 2324-9269, 01/2015, Volume 3, Issue 1, pp. 40 - 58
WNT10A is a signaling molecule involved in tooth development, and WNT10A defects are associated with tooth agenesis. We characterized Wnt10a null mice... 
Familial tooth agenesis | hypodontia | oligodontia, taurodontism | Taurodontism | Oligodontia | Hypodontia | oligodontia | taurodontism | GENETICS & HEREDITY | Rodents | Defects | Phenotypes | Mandible | Cusps | Wnt protein | Genomics | Genes | Enamel | Dental roots | Teeth | Heterozygotes | Molars | Morphogenesis | Genotype & phenotype | Signaling | Alleles | Incisors | Mice | Mutation | Supernumerary | Original
Journal Article