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Pediatric Nephrology, ISSN 0931-041X, 01/2020, Volume 35, Issue 1, pp. 77 - 78
Journal Article
Pediatric nephrology (Berlin, Germany), ISSN 0931-041X, 01/2020, Volume 35, Issue 1, pp. 79 - 82
Journal Article
Pediatric Nephrology, ISSN 0931-041X, 09/2019, pp. 1 - 2
Journal Article
Pediatric Nephrology, ISSN 0931-041X, 09/2019, pp. 1 - 3
Journal Article
Neuron, ISSN 0896-6273, 11/2015, Volume 88, Issue 3, pp. 499 - 513
Journal Article
Genetics in Medicine, ISSN 1098-3600, 12/2018, Volume 20, Issue 12, pp. 1528 - 1537
Purpose: Multilocus variation-pathogenic variants in two or more disease genes-can potentially explain the underlying genetic basis for apparent phenotypic... 
phenotypic expansion of Mendelizing disease traits | neurodevelopmental disorder | multilocus variation | distinct/overlapping blended phenotypes | personal genomes | DIAGNOSIS | DE-NOVO | PROTEIN | FAMILY | INDIVIDUALS | SPASTIC PARAPLEGIA | HYPOTONIA | GENETICS & HEREDITY | GPR126 | MUTATIONS | INHERITANCE | distinct | overlapping blended phenotypes
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 02/2015, Volume 125, Issue 2, pp. 636 - 651
Cornelia de Lange syndrome (CdLS) is a genetically heterogeneous disorder that presents with extensive phenotypic variability, including facial dysmorphism,... 
SISTER-CHROMATID COHESION | INDIVIDUALS | MEDICINE, RESEARCH & EXPERIMENTAL | HYPERTRICHOSIS-CUBITI | VARIANTS | GENETIC-HETEROGENEITY | ACTIVATOR PROTEIN | MUTATIONS | IDENTIFICATION | HUMAN HOMOLOG | NIPBL REARRANGEMENTS | Myeloid-Lymphoid Leukemia Protein - biosynthesis | Histone Deacetylases - biosynthesis | Chondroitin Sulfate Proteoglycans - genetics | Humans | Transcriptome | Child, Preschool | Exonucleases | Infant | Male | Gene Expression Profiling | Exome | De Lange Syndrome - metabolism | Chromosomal Proteins, Non-Histone - biosynthesis | Cell Cycle Proteins - genetics | Adult | Chondroitin Sulfate Proteoglycans - biosynthesis | Child | De Lange Syndrome - genetics | Genome-Wide Association Study | Histone Deacetylases - genetics | Histone-Lysine N-Methyltransferase | Gene Expression Regulation | Repressor Proteins - genetics | Cell Cycle Proteins - biosynthesis | Codon, Nonsense | Chromosomal Proteins, Non-Histone - genetics | Proteins - genetics | Phenotype | Proteins - metabolism | Repressor Proteins - biosynthesis | Myeloid-Lymphoid Leukemia Protein - genetics | Adolescent | Heterozygote | De Lange Syndrome - pathology | De Lange syndrome | Gene mutations | Exome sequencing | Genetic research | Development and progression | Genetic transcription | Research | Diagnosis | Identification and classification | Methods | Proteins | Studies | Genotype & phenotype | Genomics | Zebrafish | Genomes | Mutation | Chromosomes
Journal Article
EUROPEAN JOURNAL OF ENDOCRINOLOGY, ISSN 0804-4643, 05/2019, Volume 180, Issue 5, pp. 291 - 309
Journal Article
Human mutation, ISSN 1059-7794, 2013, Volume 34, Issue 11, pp. 1519 - 1528
Journal Article
Annals of Dermatology, ISSN 1013-9087, 2019, Volume 31, Issue Suppl, p. S10
Journal Article
Journal Article
Brain & Development, ISSN 0387-7604, 2015, Volume 38, Issue 4, pp. 435 - 438
Journal Article
CURRENT MEDICAL IMAGING, ISSN 1573-4056, 2019, Volume 15, Issue 9, pp. 895 - 899
Background: Autism Spectrum Disorder (ASD) is a complex developmental disorder in which neurological basis is largely unknown. The Corpus Callosum (CC) is the... 
PATHWAYS | WHITE-MATTER | ABNORMALITIES | MRI | SPECTRUM DISORDERS | ADULTS | HIGH-FUNCTIONING AUTISM | Autism | ASD | axons | CONNECTIVITY | AGENESIS | DTI | hemisphere | corpus callosum | RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING | YOUNG-CHILDREN | Axons | Correlation | Tensors | Myelination | Magnetic resonance imaging | Cortex | Cerebral hemispheres | Children | Surface area | Corpus callosum
Journal Article
by Stray-Pedersen, Asbjørg, MD, PhD and Sorte, Hanne Sørmo, MS and Samarakoon, Pubudu, MS and Gambin, Tomasz, PhD and Chinn, Ivan K., MD and Coban Akdemir, Zeynep H., PhD and Erichsen, Hans Christian, MD, PhD and Forbes, Lisa R., MD and Gu, Shen, PhD and Yuan, Bo, PhD and Jhangiani, Shalini N., MS and Muzny, Donna M., MS and Rødningen, Olaug Kristin, PhD and Sheng, Ying, PhD and Nicholas, Sarah K., MD, PhD and Noroski, Lenora M., MD, MPH and Seeborg, Filiz O., MD, MPH and Davis, Carla M., MD and Canter, Debra L., MS and Mace, Emily M., PhD and Vece, Timothy J., MD and Allen, Carl E., MD, PhD and Abhyankar, Harshal A., MS and Boone, Philip M., MD, PhD and Beck, Christine R., PhD and Wiszniewski, Wojciech, MD, PhD and Fevang, Børre, MD, PhD and Aukrust, Pål, MD, PhD and Tjønnfjord, Geir E., MD, PhD and Gedde-Dahl, Tobias, MD, PhD and Hjorth-Hansen, Henrik, MD, PhD and Dybedal, Ingunn, MD, PhD and Nordøy, Ingvild, MD, PhD and Jørgensen, Silje F., MD and Abrahamsen, Tore G., MD, PhD and Øverland, Torstein, MD and Bechensteen, Anne Grete, MD, PhD and Skogen, Vegard, MD, PhD and Osnes, Liv T.N., MD, PhD and Kulseth, Mari Ann, PhD and Prescott, Trine E., MD and Rustad, Cecilie F., MD and Heimdal, Ketil R., MD, PhD and Belmont, John W., MD, PhD and Rider, Nicholas L., DO and Chinen, Javier, MD, PhD and Cao, Tram N., MS and Smith, Eric A., BSc and Caldirola, Maria Soledad, BSc and Bezrodnik, Liliana, MD and Lugo Reyes, Saul Oswaldo, MD and Espinosa Rosales, Francisco J., MD and Guerrero-Cursaru, Nina Denisse, BSc and Pedroza, Luis Alberto, PhD and Poli, Cecilia M., MD and Franco, Jose L., MD, PhD and Trujillo Vargas, Claudia M., PhD and Aldave Becerra, Juan Carlos, MD and Wright, Nicola, MD and Issekutz, Thomas B., MD and Issekutz, Andrew C., MD and Abbott, Jordan, MD and Caldwell, Jason W., DO and Bayer, Diana K., DO and Chan, Alice Y., MD, PhD and Aiuti, Alessandro, MD, PhD and Cancrini, Caterina, MD, PhD and Holmberg, Eva, MD and West, Christina, MD, PhD and Burstedt, Magnus, MD, PhD and Karaca, Ender, MD and Yesil, Gözde, MD and Artac, Hasibe, MD and Bayram, Yavuz, MD and Atik, Mehmed Musa, BSc and Eldomery, Mohammad K., MD and Ehlayel, Mohammad S., MD, PhD and Jolles, Stephen, MD, PhD and Flatø, Berit, MD, PhD and Bertuch, Alison A., MD, PhD and Hanson, I. Celine, MD and Zhang, Victor W., PhD and Wong, Lee-Jun, PhD and Hu, Jianhong, PhD and Walkiewicz, Magdalena, PhD and Yang, Yaping, PhD and Eng, Christine M., MD and Boerwinkle, Eric, PhD and Gibbs, Richard A., PhD and Shearer, William T., MD, PhD and Lyle, Robert, PhD and Orange, Jordan S., MD, PhD and Lupski, James R., MD, PhD, DSc (Hon) and Medicinska fakulteten and Institutionen för klinisk vetenskap and Pediatrik and Umeå universitet
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 139, Issue 1, pp. 232 - 245
Journal Article