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Nature Reviews Cardiology, ISSN 1759-5002, 10/2019
Journal Article
Journal of Genetic Counseling, ISSN 1059-7700, 04/2019, Volume 28, Issue 2, pp. 398 - 406
Whole exome sequencing (WES) has become a fundamental component of genetic evaluation and diagnosing rare genetic diseases. This test is now offered to... 
HEALTH POLICY & SERVICES | SOCIAL SCIENCES, BIOMEDICAL | GENETICS & HEREDITY | Genetic counseling | Genetic disorders | Clinical research | Recurrent | Patients | Genetic counselling | Counselling
Journal Article
by Cheng, Hanyin and Dharmadhikari, Avinash V and Varland, Sylvia and Ma, Ning and Domingo, Deepti and Kleyner, Robert and Rope, Alan F and Yoon, Margaret and Stray-Pedersen, Asbjørg and Posey, Jennifer E and Crews, Sarah R and Eldomery, Mohammad K and Akdemir, Zeynep Coban and Lewis, Andrea M and Sutton, Vernon R and Rosenfeld, Jill A and Conboy, Erin and Agre, Katherine and Xia, Fan and Walkiewicz, Magdalena and Longoni, Mauro and High, Frances A and van Slegtenhorst, Marjon A and Mancini, Grazia M.S and Finnila, Candice R and van Haeringen, Arie and den Hollander, Nicolette and Ruivenkamp, Claudia and Naidu, Sakkubai and Mahida, Sonal and Palmer, Elizabeth E and Murray, Lucinda and Lim, Derek and Jayakar, Parul and Parker, Michael J and Giusto, Stefania and Stracuzzi, Emanuela and Romano, Corrado and Beighley, Jennifer S and Bernier, Raphael A and Küry, Sébastien and Nizon, Mathilde and Corbett, Mark A and Shaw, Marie and Gardner, Alison and Barnett, Christopher and Armstrong, Ruth and Kassahn, Karin S and Van Dijck, Anke and Vandeweyer, Geert and Kleefstra, Tjitske and Schieving, Jolanda and Jongmans, Marjolijn J and de Vries, Bert B.A and Pfundt, Rolph and Kerr, Bronwyn and Rojas, Samantha K and Boycott, Kym M and Person, Richard and Willaert, Rebecca and Eichler, Evan E and Kooy, R. Frank and Yang, Yaping and Wu, Joseph C and Lupski, James R and Arnesen, Thomas and Cooper, Gregory M and Chung, Wendy K and Gecz, Jozef and Stessman, Holly A.F and Meng, Linyan and Lyon, Gholson J
The American Journal of Human Genetics, ISSN 0002-9297, 05/2018, Volume 102, Issue 5, pp. 985 - 994
Journal Article
by Cogné, Benjamin and Ehresmann, Sophie and Beauregard-Lacroix, Eliane and Rousseau, Justine and Besnard, Thomas and Garcia, Thomas and Petrovski, Slavé and Avni, Shiri and McWalter, Kirsty and Blackburn, Patrick R and Sanders, Stephan J and Uguen, Kévin and Harris, Jacqueline and Cohen, Julie S and Blyth, Moira and Lehman, Anna and Berg, Jonathan and Li, Mindy H and Kini, Usha and Joss, Shelagh and von der Lippe, Charlotte and Gordon, Christopher T and Humberson, Jennifer B and Robak, Laurie and Scott, Daryl A and Sutton, Vernon R and Skraban, Cara M and Johnston, Jennifer J and Poduri, Annapurna and Nordenskjöld, Magnus and Shashi, Vandana and Gerkes, Erica H and Bongers, Ernie M.H.F and Gilissen, Christian and Zarate, Yuri A and Kvarnung, Malin and Lally, Kevin P and Kulch, Peggy A and Daniels, Brina and Hernandez-Garcia, Andres and Stong, Nicholas and McGaughran, Julie and Retterer, Kyle and Tveten, Kristian and Sullivan, Jennifer and Geisheker, Madeleine R and Stray-Pedersen, Asbjorg and Tarpinian, Jennifer M and Klee, Eric W and Sapp, Julie C and Zyskind, Jacob and Holla, Øystein L and Bedoukian, Emma and Filippini, Francesca and Guimier, Anne and Picard, Arnaud and Busk, Øyvind L and Punetha, Jaya and Pfundt, Rolph and Lindstrand, Anna and Nordgren, Ann and Kalb, Fayth and Desai, Megha and Ebanks, Ashley Harmon and Jhangiani, Shalini N and Dewan, Tammie and Coban Akdemir, Zeynep H and Telegrafi, Aida and Zackai, Elaine H and Begtrup, Amber and Song, Xiaofei and Toutain, Annick and Wentzensen, Ingrid M and Odent, Sylvie and Bonneau, Dominique and Latypova, Xénia and Deb, Wallid and Redon, Sylvia and Redon, Richard and Bilan, Frédéric and Legendre, Marine and Troyer, Caitlin and Whitlock, Kerri and Caluseriu, Oana and Murphree, Marine I and Pichurin, Pavel N and Agre, Katherine and Gavrilova, Ralitza and Rinne, Tuula and Park, Meredith and Shain, Catherine and Heinzen, Erin L and Xiao, Rui and Amiel, Jeanne and Lyonnet, Stanislas and Isidor, Bertrand and Biesecker, Leslie G and Lowenstein, Dan and Posey, Jennifer E and Denommé-Pichon, Anne-Sophie and ... and Deciphering Dev Disorders Study and CAUSES Study and Deciphering Developmental Disorders study
The American Journal of Human Genetics, ISSN 0002-9297, 03/2019, Volume 104, Issue 3, pp. 530 - 541
Journal Article
JIMD Reports, ISSN 2192-8304, 2018, Volume 40, pp. 63 - 69
We report an 8-month-old infant with decreased consciousness after a febrile episode and reduced oral intake. He was profoundly acidotic but his lactate was... 
HMG-CoA synthase | HMG-CoA synthase deficiency | HMGCS2 | High-density lipoproteins | 3-Hydroxy-3-methylglutaryl-CoA | Hypertriglyceridemia
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 10/1990, Volume 323, Issue 15, pp. 1046 - 1050
HEREDITARY spherocytosis is a heterogeneous disorder characterized by hemolytic anemia, spheroidal red cells, and increased osmotic fragility of erythrocytes.... 
MEDICINE, GENERAL & INTERNAL | Membrane Proteins - genetics | Humans | Male | Erythrocytes - chemistry | Spectrin - analysis | Genes, Dominant | Polymorphism, Restriction Fragment Length | Blood Proteins - genetics | DNA - analysis | Pedigree | Ankyrins | Female | Spherocytosis, Hereditary - genetics | Genetic Linkage | Proteins | Medical research | Genetics | Disease
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 10/1990, Volume 323, Issue 15, p. 1046
Several lines of evidence suggest that it is a disorder of the red-cell membrane skeleton, although the precise molecular defect has not been identified.1 2 3... 
Membranes | Internal medicine | Hematology | Anemia | Genes | Families & family life | Blood | Membrane proteins | Medicine | Proteins | Sodium | Hereditary spherocytosis | Ankyrin | Genetic testing | Chromosomes | Spherocytosis | Deoxyribonucleic acid--DNA | Siblings
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 10/1990, Volume 323, Issue 15, p. 1046
Hereditary spherocytosis is passed as an autosomal (not sex-linked) dominant disorder and typically occurs in individuals of northern European heritage. The... 
Spherocytosis, Hereditary | Complications | Abnormalities | Erythrocytes | Causes of | Physiological aspects | Genetic aspects
Journal Article
Science as Culture, ISSN 0950-5431, 06/2002, Volume 11, Issue 2, pp. 171 - 189
Journal Article
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