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The New England Journal of Medicine, ISSN 0028-4793, 10/2012, Volume 367, Issue 14, pp. 1321 - 1331
Journal Article
PLoS ONE, ISSN 1932-6203, 02/2013, Volume 8, Issue 2, p. e57460
Individuals with terminal and interstitial deletions of chromosome 1p36 have a spectrum of defects that includes eye anomalies, postnatal growth deficiency,... 
HEART | MENTAL-RETARDATION | GENE | RETINOIC ACID SYNTHESIS | SKI PROTOONCOGENE | MULTIDISCIPLINARY SCIENCES | MOUSE | CALRETININ IMMUNOREACTIVITY | DENTATE GYRUS | HISTONE DEACETYLASE | MONOSOMY 1P36 | Chromosome Deletion | Hippocampus - embryology | Mice, Inbred C57BL | Embryonic Development - genetics | Body Weight - drug effects | Repressor Proteins - genetics | Male | Hippocampus - drug effects | Body Weight - genetics | Cardiovascular Diseases - genetics | Nerve Tissue Proteins - genetics | Hearing Loss - genetics | Chromosomes - drug effects | Phenotype | Animals | Chromosomes - genetics | Alleles | Ethylnitrosourea | Mice | Chromosomes, Human, Pair 1 - genetics | Embryonic Development - drug effects | Neurons - drug effects | Abnormalities, Multiple - genetics | Chromosome Disorders - genetics | Embryonic development | Amino acids | Congenital heart disease | Seizures (Medicine) | Glutamate | Analysis | Heart | Glutamic acid | Brain | Pediatrics | Cardiomyopathy | Physicians | Genes | Cognitive ability | Otolaryngology | Ventricles (cerebral) | Arteries | Defects | Eye | Morphogenesis | Embryogenesis | Developmental stages | Arginine | Rodents | Genetics | Aorta | Heart diseases | Seizures | Hypoplasia | Kidneys | Organs | Hearing impairment | Chromosome 1 | Hearing loss | Embryonic growth stage | Medicine | Signaling | Ethyl nitrosourea | Acids | Cellular biology | Aortic arch | Fibrosis | Ear | Ventricle | Mutation | Auditory defects | Retinoic acid | Hippocampus | Kidney transplantation | Anomalies
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 02/2018, Volume 123, Issue 2, pp. S136 - S136
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 02/2018, Volume 123, Issue 2, pp. S52 - S52
Journal Article
Genetics in Medicine, ISSN 1098-3600, 10/2018, Volume 20, Issue 10, pp. 1284 - 1294
Journal Article
Genetics in medicine : official journal of the American College of Medical Genetics, ISSN 1098-3600, 05/2019, Volume 21, Issue 11, pp. 2543 - 2551
To characterize clinical characteristics and genotypes of patients in the ADVANCE study of 4000 L-scale alglucosidase alfa (NCT01526785), the largest... 
Journal Article
by Koczkowska, Magdalena and Chen, Zhenbin and Chen, Yunjia and Callens, Tom and Gomes, Alicia and Sharp, Angela and Johnson, Sherrell and Hsiao, Meng-Chang and Balasubramanian, Meena and Barnett, Christopher P and Becker, Troy A and Ben-Shachar, Shay and Bertola, Debora R and Blakeley, Jaishri O and Burkitt-Wright, Emma M.M and Callaway, Alison and Crenshaw, Melissa and Cunha, Karin S and Cunningham, Mitch and D’Agostino, Maria D and Dahan, Karin and De Luca, Alessandro and Destrée, Anne and Dhamija, Radhika and Eoli, Marica and Evans, D. Gareth R and Galvin-Parton, Patricia and George-Abraham, Jaya K and Gripp, Karen W and Guevara-Campos, Jose and Hanchard, Neil A and Hernández-Chico, Concepcion and Immken, LaDonna and Janssens, Sandra and Jones, Kristi J and Keena, Beth A and Kochhar, Aaina and Liebelt, Jan and Martir-Negron, Arelis and Mahoney, Maurice J and Maystadt, Isabelle and McDougall, Carey and McEntagart, Meriel and Mendelsohn, Nancy and Miller, David T and Mortier, Geert and Morton, Jenny and Pappas, John and Plotkin, Scott R and Pond, Dinel and Rosenbaum, Kenneth and Rubin, Karol and Russell, Laura and Rutledge, Lane S and Saletti, Veronica and Schonberg, Rhonda and Schreiber, Allison and Seidel, Meredith and Siqveland, Elizabeth and Stockton, David W and Trevisson, Eva and Ullrich, Nicole J and Upadhyaya, Meena and van Minkelen, Rick and Verhelst, Helene and Wallace, Margaret R and Yap, Yoon-Sim and Zackai, Elaine and Zonana, Jonathan and Zurcher, Vickie and Claes, Kathleen and Martin, Yolanda and Korf, Bruce R and Legius, Eric and Messiaen, Ludwine M
The American Journal of Human Genetics, ISSN 0002-9297, 01/2018, Volume 102, Issue 1, pp. 69 - 87
Journal Article
Nature Genetics, ISSN 1061-4036, 12/2002, Volume 32, Issue 4, pp. 614 - 621
Chuvash polycythemia is an autosomal recessive disorder that is endemic to the mid-Volga River region. We previously mapped the locus associated with Chuvash... 
VHL GENE | TRANSCRIPTIONAL ACTIVITY | INDUCIBLE FACTOR 1-ALPHA | PROLYL HYDROXYLATION | ERYTHROPOIESIS | HIPPEL-LINDAU-DISEASE | GENETICS & HEREDITY | TUMOR-SUPPRESSOR PROTEIN | HYPOXIA | HIF-ALPHA | ERYTHROCYTOSIS | Haplotypes | Polycythemia - genetics | Humans | Ligases - genetics | Homeostasis | Male | Mutation, Missense | Transferrin - genetics | Hypoxia-Inducible Factor 1, alpha Subunit | Oxygen - metabolism | Russia | DNA-Binding Proteins - metabolism | Erythropoietin - blood | Chromosomes, Human, Pair 3 | Germ-Line Mutation | Adult | Female | Receptors, Transferrin - genetics | Tumor Cells, Cultured | Ubiquitins - metabolism | Hypoxia-Inducible Factor 1 | Receptors, Transferrin - blood | Gene Frequency | Cells, Cultured | Gene Expression Regulation | Ligases - metabolism | Nuclear Proteins - metabolism | Transcription Factors - genetics | von Hippel-Lindau Disease - genetics | Nuclear Proteins - chemistry | DNA-Binding Proteins - chemistry | Transcription Factors - metabolism | Transferrin - analysis | Ubiquitin-Protein Ligases | Erythropoietin - genetics | Homozygote | Polycythemia - etiology | Pedigree | Adolescent | Alleles | Polycythemia - metabolism | Protein Binding | Von Hippel-Lindau Tumor Suppressor Protein | Tumor Suppressor Proteins | Amino Acid Substitution | Polycythemia | Physiological aspects | Genetic aspects | Research | Diagnosis | Genetic transcription | Risk factors
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 02/2019, Volume 126, Issue 2, pp. S140 - S140
Journal Article
Human Mutation, ISSN 1059-7794, 03/2012, Volume 33, Issue 3, pp. 457 - 466
Journal Article