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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
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 11/2019, Volume 105, Issue 5, pp. 1048 - 1056
encodes netrin-G2, a membrane-anchored protein implicated in the molecular organization of neuronal circuitry and synaptic organization and diversification in... 
NTNG2 | developmental delay | neurodevelopmental disorder | intellectual disability | autism | GENETICS & HEREDITY | SYNAPSE DEVELOPMENT | OUTGROWTH | LIGAND | EXPRESSION | TEMPORAL-LOBE | FAMILY | Genetic variation | Cell adhesion | Nervous system | Degeneration | Genetic aspects | Research | Risk factors | Child development deviations | Developmental disabilities
Journal Article
世界胃肠病学杂志:英文版, ISSN 1007-9327, 2016, Volume 22, Issue 16, pp. 4219 - 4225
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 Article
The Journal of Clinical Endocrinology & Metabolism, ISSN 0021-972X, 01/2015, Volume 100, Issue 1, pp. E140 - E147
Context: Pituitary stalk interruption syndrome (PSIS) is a rare, congenital anomaly of the pituitary gland characterized by pituitary gland insufficiency, thin... 
HYPOPITUITARISM | VARIANTS | PROTEIN-COUPLED RECEPTOR | GENES | ENDOCRINOLOGY & METABOLISM | PHENOTYPE | ALPHA | MECHANISMS | HEDGEHOG | GLI3 | GLAND | Exome | Genome-Wide Association Study | Pituitary Gland - abnormalities | Humans | Adolescent | Child, Preschool | Female | Receptors, G-Protein-Coupled - genetics | Hypopituitarism - genetics | Mutation | Advances in Genetics | JCEM Online
Journal Article
Journal Article
Ege Tıp Dergisi, ISSN 1016-9113, 2005, Volume 44, Issue 1, pp. 55 - 58
Göğüs duvarı hamartomu saptanan 4 aylık kız bebek sunulmuştur. Yenidoğan ve infantlarda oldukça nadir görülen bu karakteristik lezyon ; salt kitle varlığıyla... 
Hamartom | Diagnosis, Differential | Neoplazmlar | Thoracic Wall | Tanı, ayırıcı | Çocuk | Toraks duvarı | Child | Neoplasms | Hamartoma
Journal Article
Journal of clinical immunology, ISSN 0271-9142, 2015, Volume 35, Issue 2, pp. 189 - 198