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Genetics in medicine : official journal of the American College of Medical Genetics, ISSN 1098-3600, 04/2019
Maternal diabetes is a known teratogen that can cause a wide spectrum of birth defects, collectively referred to as diabetic embryopathy (DE). However, the... 
Journal Article
Circulation, ISSN 0009-7322, 11/2015, Volume 132, Issue Suppl_3 Suppl 3, pp. A17616 - A17616
IntroductionBicuspid Aortic Valve (BAV) is the most common adult congenital heart defect. The spectrum of BAV ranges from chromosomal disorders such as Turner... 
Journal Article
JAMA Pediatrics, ISSN 2168-6203, 12/2017, Volume 171, Issue 12, pp. e173438 - e173438
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 10/2016, Volume 99, Issue 4, pp. 886 - 893
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 02/2016, Volume 98, Issue 2, pp. 347 - 357
Journal Article
Frontiers in Genetics, ISSN 1664-8021, 2019, Volume 10, Issue MAY, pp. 509 - 509
Hydroxyurea (HU) is clinically beneficial in sickle cell disease (SCD) through fetal hemoglobin (HbF) induction; however, the mechanism of HU is not yet fully... 
Hydroxyurea | Sickle cell disease | Africa | MiRNA | Fetal hemoglobin | Usage | MicroRNA | Sickle cell anemia | Genetic aspects | Research | Drug therapy | miRNA | fetal hemoglobin | hydroxyurea | sickle cell disease
Journal Article
by Rotimi, Charles and Abayomi, Akin and Abimiku, Alash'le and Adabayeri, Victoria May and Adebamowo, Clement and Adebiyi, Ezekiel and Ademola, Adebowale D and Adeyemo, Adebowale and Adu, Dwomoa and Affolabi, Dissou and Agongo, Godfred and Ajayi, Samuel and Akarolo-Anthony, Sally and Akinyemi, Rufus and Akpalu, Albert and Alberts, Marianne and Alonso Betancourt, Orlando and Alzohairy, Ahmed Mansour and Ameni, Gobena and Amodu, Olukemi and Anabwani, Gabriel and Andersen, Kristian G and Arogundade, Fatiu and Arulogun, Oyedunni and Asogun, Danny A and Bakare, Rasheed and Balde, Naby and Baniecki, Mary Lynn and Beiswanger, Christine and Benkahla, Alia and Bethke, Lara and Boehnke, Micheal and Boima, Vincent and Brandful, James and Brooks, Andrew I and Brosius, Frank C and Brown, Chester W and Bucheton, Bruno and Burke, David T and Burnett, Barrington G and Carrington-Lawrence, Stacy and Carstens, Nadia and Chisi, John and Christoffels, Alan and Cooper, Richard and Cordell, Heather and Crowther, Nigel and Croxton, Talishiea and De Vries, Jantina and Derr, Leslie and Donkor, Peter and Doumbia, Seydou and Duncanson, Audrey and Ekem, Ivy and El Sayed, Ahmed and Engel, Mark E and Enyaru, John C.K and Everett, Dean and Fadlelmola, Faisal M and Fakunle, Eyitayo and Fischbeck, Kenneth H and Fischer, Anne and Folarin, Onikepe and Gamieldien, Junaid and Garry, Robert F and Gaseitsiwe, Simani and Gbadegesin, Rasheed and Ghansah, Anita and Giovanni, Maria and Goesbeck, Parham and Gomez-Olive, F. Xavier and Grant, Donald S and Grewal, Ravnit and Guyer, Mark and Hanchard, Neil A and Happi, Christian T and Hazelhurst, Scott and Hennig, Branwen J and Hertz-Fowler, Christiane and Hide, Winston and Hilderbrandt, Friedhelm and Hugo-Hamman, Christopher and Ibrahim, Muntaser E and James, Regina and Jaufeerally-Fakim, Yasmina and Jenkins, Carolyn and Jentsch, Ute and Jiang, Pan-Pan and Joloba, Moses and Jongeneel, Victor C and Joubert, Fourie and Kader, Mukthar and Kahn, Kathleen and Kaleebu, Pontiano and Kapiga, Saidi H and Kassim, Samar Kamal and Kasvosve, Ishmael and Kayondo, Jonathan and Keavney, Bernard and Kekitiinwa, Adeodata and ... and H3Africa Consortium
Science, ISSN 0036-8075, 2014, Volume 344, Issue 6190, pp. 1346 - 1348
Journal Article
by Frésard, Laure and Smail, Craig and Ferraro, Nicole M and Teran, Nicole A and Li, Xin and Smith, Kevin S and Bonner, Devon and Kernohan, Kristin D and Marwaha, Shruti and Zappala, Zachary and Balliu, Brunilda and Davis, Joe R and Liu, Boxiang and Prybol, Cameron J and Kohler, Jennefer N and Zastrow, Diane B and Reuter, Chloe M and Fisk, Dianna G and Grove, Megan E and Davidson, Jean M and Hartley, Taila and Joshi, Ruchi and Strober, Benjamin J and Utiramerur, Sowmithri and Adams, David R and Aday, Aaron and Alejandro, Mercedes E and Allard, Patrick and Ashley, Euan A and Azamian, Mahshid S and Bacino, Carlos A and Baker, Eva and Balasubramanyam, Ashok and Barseghyan, Hayk and Batzli, Gabriel F and Beggs, Alan H and Behnam, Babak and Bellen, Hugo J and Bernstein, Jonathan A and Berry, Gerard T and Bican, Anna and Bick, David P and Birch, Camille L and Bonner, Devon and Boone, Braden E and Bostwick, Bret L and Briere, Lauren C and Brokamp, Elly and Brown, Donna M and Brush, Matthew and Burke, Elizabeth A and Burrage, Lindsay C and Butte, Manish J and Chen, Shan and Clark, Gary D and Coakley, Terra R and Cogan, Joy D and Colley, Heather A and Cooper, Cynthia M and Cope, Heidi and Craigen, William J and D’Souza, Precilla and Davids, Mariska and Davidson, Jean M and Dayal, Jyoti G and Dell’Angelica, Esteban C and Dhar, Shweta U and Dipple, Katrina M and Donnell-Fink, Laurel A and Dorrani, Naghmeh and Dorset, Daniel C and Douine, Emilie D and Draper, David D and Dries, Annika M and Duncan, Laura and Eckstein, David J and Emrick, Lisa T and Eng, Christine M and Enns, Gregory M and Eskin, Ascia and Esteves, Cecilia and Estwick, Tyra and Fernandez, Liliana and Ferreira, Carlos and Fieg, Elizabeth L and Fisher, Paul G and Fogel, Brent L and Friedman, Noah D and Gahl, William A and Glanton, Emily and Godfrey, Rena A and Goldman, Alica M and Goldstein, David B and Gould, Sarah E and Gourdine, Jean-Philippe F and Groden, Catherine A and Gropman, Andrea L and Haendel, Melissa and Hamid, Rizwan and Hanchard, Neil A and ... and Care4Rare Canada Consortium and Undiagnosed Diseases Network
Nature Medicine, ISSN 1078-8956, 06/2019, Volume 25, Issue 6, pp. 911 - 919
It is estimated that 350 million individuals worldwide suffer from rare diseases, which are predominantly caused by mutation in a single gene . The current... 
Disease | Splicing | Muscles | Ribonucleic acid--RNA | Gene expression | Disease control | Blood | Gene sequencing | Diseases | Mitochondria | Biopsy | Diagnostic software | Fibroblasts | Diagnostic systems | Mutation | Index Medicus
Journal Article
Journal Article