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The New England Journal of Medicine, ISSN 0028-4793, 10/2012, Volume 367, Issue 14, pp. 1321 - 1331
Journal Article
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 07/2018, Volume 41, Issue 4, pp. 719 - 729
Primary CoQ deficiency is a clinically and genetically heterogeneous, autosomal recessive disorder resulting from mutations in genes involved in the synthesis... 
Prenatal | COQ9 | deficiency | Primary CoQ | Mitochondrial disease | Exome sequencing
Journal Article
American Journal of Gastroenterology, ISSN 0002-9270, 02/2016, Volume 111, Issue 2, pp. 275 - 284
OBJECTIVES: Hereditary biallelic mismatch repair deficiency (BMMRD) is caused by biallelic mutations in the mismatch repair (MMR) genes and manifests features... 
TURCOT-SYNDROME | GENE-MUTATIONS | BRAIN-TUMOR | LYNCH-SYNDROME | COLORECTAL-CANCER | GERMLINE MUTATIONS | EARLY-ONSET | MSH6 MUTATIONS | GASTROENTEROLOGY & HEPATOLOGY | PMS2 MUTATIONS | CHILDHOOD | Colorectal Neoplasms - surgery | Melanoma - etiology | MutL Protein Homolog 1 | Adenoma - surgery | Prospective Studies | Brain Neoplasms - etiology | Adenoma - genetics | Glioma - etiology | Adenocarcinoma - etiology | Colorectal Neoplasms - genetics | Humans | Brain Neoplasms - physiopathology | DNA Repair Enzymes - genetics | Child, Preschool | Male | Brain Neoplasms - complications | Young Adult | Colorectal Neoplasms - etiology | Leukemia - etiology | Kidney Neoplasms - etiology | Germ-Line Mutation | Adult | Female | Adenocarcinoma - genetics | Mismatch Repair Endonuclease PMS2 | Neoplastic Syndromes, Hereditary - genetics | Retrospective Studies | Nuclear Proteins - genetics | Child | Intestinal Neoplasms - genetics | Intestinal Neoplasms - surgery | Brain Neoplasms - genetics | Adenoma - etiology | Intestinal Neoplasms - etiology | DNA-Binding Proteins - genetics | Colorectal Neoplasms - physiopathology | Phenotype | Intestine, Small - surgery | Lymphoma - etiology | Adaptor Proteins, Signal Transducing - genetics | Adolescent | Alleles | Neoplastic Syndromes, Hereditary - complications | Wilms Tumor - etiology | Neoplastic Syndromes, Hereditary - physiopathology | Adenosine Triphosphatases - genetics | Colorectal Neoplasms - complications | Adenocarcinoma - surgery
Journal Article
by Kaiser, Frank J and Ansari, Morad and Braunholz, Diana and Concepción Gil-Roíguez, María and Decroos, Christophe and Wilde, Jonathan J and Fincher, Christopher T and Kaur, Maninder and Bando, Masashige and Amor, David J and Atwal, Paldeep S and Bahlo, Melanie and Bowman, Christine M and Bradley, Jacquelyn J and Brunner, Han G and Clark, Dinah and del Campo, Miguel and Di Donato, Nataliya and Diakumis, Peter and Dubbs, Holly and Dyment, David A and Eckhold, Juliane and Ernst, Sarah and Ferreira, Jose C and Francey, Lauren J and Gehlken, Ulrike and Guillén-Navarro, Encarna and Gyftodimou, Yolanda and Hall, Bryan D and Hennekam, Raoul and Hudgins, Louanne and Hullings, Melanie and Hunter, Jennifer M and Yntema, Helger and Innes, A. Micheil and Kline, Antonie D and Krumina, Zita and Lee, Hane and Leppig, Kathleen and Lynch, Sally Ann and Mallozzi, Mark B and Mannini, Linda and McKee, Shane and Mehta, Sarju G and Micule, Ieva and Mohammed, Shehla and Moran, Ellen and Mortier, Geert R and Moser, Joe-Ann S and Noon, Sarah E and Nozaki, Naohito and Nunes, Luis and Pappas, John G and Penney, Lynette S and Pérez-Aytés, Antonio and Petersen, Michael B and Puisac, Beatriz and Revencu, Nicole and Roeder, Elizabeth and Saitta, Sulagna and Scheuerle, Angela E and Schindeler, Karen L and Siu, Victoria M and Stark, Zornitza and Strom, Samuel P and Thiese, Heidi and Vater, Inga and Willems, Patrick and Williamson, Kathleen and Wilson, Louise C and Hakonarson, Hakon and Quintero-Rivera, Fabiola and Wierzba, Jolanta and Musio, Antonio and Gillessen-Kaesbach, Gabriele and Ramos, Feliciano J and Jackson, Laird G and Shirahige, Katsuhiko and Pié, Juan and Christianson, David W and Krantz, Ian D and Fitzpatrick, David R and Deardorff, Matthew A and Univ Washington Ctr Mendelian Geno and CareRare Canada Consortium and Care4Rare Canada Consortium and University of Washington Center for Mendelian Genomics
Human molecular genetics, ISSN 0964-6906, 2014, Volume 23, Issue 11, pp. 2888 - 2900
Journal Article
Journal Article
Journal Article
Journal Article
PLoS Genetics, ISSN 1553-7390, 10/2014, Volume 10, Issue 10
  Gastric cancer is among the leading causes of cancer-related deaths worldwide. While heritable forms of gastric cancer are relatively rare, identifying the... 
Medical research | Mutation | Kinases | Genes
Journal Article
International Journal of Pediatric Otorhinolaryngology, ISSN 0165-5876, 05/2019, Volume 120, pp. 68 - 72
Infant-onset bilateral sensorineural hearing loss is a key presenting symptom of the autoinflammatory cryopyrin-associated periodic syndrome. Other symptoms... 
Cryopyrin-associated periodic syndrome | Canakinumab | Neonatal-Onset Multisystem Inflammatory Disease | Sensorineural hearing loss | Anakinra | OTORHINOLARYNGOLOGY | PEDIATRICS | MUTATIONS | CIAS1 | Medical students | Infants (Newborn) | Allergy | Interleukins | Medical genetics | Meningitis | Amyloidosis | Allergic reaction | Hearing loss
Journal Article
Journal of Obstetrics and Gynaecology Canada, ISSN 1701-2163, 05/2019, Volume 41, Issue 5, pp. 736 - 737
Journal Article