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Pediatria Integral, ISSN 1135-4542, 2014, Volume 18, Issue 8, pp. 507 - 514
Journal Article
Revista Espanola de Pediatria, ISSN 0034-947X, 01/2009, Volume 65, Issue 1, pp. 20 - 23
Journal Article
Revista Española de Cardiología, ISSN 0300-8932, 2011, Volume 65, Issue 5, pp. 447 - 455
Resumen Introducción y objetivos La caracterización molecular de cardiopatías incluye una entidad congénita no infrecuente, el síndrome de Noonan. Presentamos... 
Cardiovascular | Estenosis pulmonar | Pulmonary stenosis | Miocardiopatía hipertrófica | Gene mutation | Mutación génica | Hypertrophic cardiomyopathy | Genes RAS-MAPK | RAS-MAPK genes
Journal Article
GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY, ISSN 0721-832X, 05/2019, Volume 257, Issue 5, pp. 1059 - 1059
Journal Article
Journal of Clinical Pathology, ISSN 0022-2593, 02/1988, Volume 45, Issue 2, p. 106
The objective of this study was to investigate whether aesthesiometric threshold changes occur over the course of a workshift in vibration exposed hard rock... 
Journal Article
Nature Genetics, ISSN 1061-4036, 2012, Volume 44, Issue 7, pp. 793 - 796
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 04/2012, Volume 20, Issue 4, pp. 381 - 388
Journal Article
by Demaerel, Wolfram and Hestand, Matthew S and Vergaelen, Elfi and Swillen, Ann and López-Sánchez, Marcos and Pérez-Jurado, Luis A and McDonald-McGinn, Donna M and Zackai, Elaine and Emanuel, Beverly S and Morrow, Bernice E and Breckpot, Jeroen and Devriendt, Koenraad and Vermeesch, Joris R and Antshel, Kevin and Arango, Celso and Armando, Marco and Bassett, Anne and Bearden, Carrie and Boot, Erik and Bravo-Sanchez, Marta and Breetvelt, Elemi and Busa, Tiffany and Butcher, Nancy and Campbell, Linda and Carmel, Miri and Chow, Eva and Crowley, T. Blaine and Cubells, Joseph and Cutler, David and Demaerel, Wolfram and Digilio, Maria Cristina and Duijff, Sasja and Eliez, Stephan and Emanuel, Beverly and Epstein, Michael and Evers, Rens and Fernandez Garcia-Moya, Luis and Fiksinski, Ania and Fraguas, David and Fremont, Wanda and Fritsch, Rosemarie and Garcia-Minaur, Sixto and Golden, Aaron and Gothelf, Doron and Guo, Tingwei and Gur, Ruben and Gur, Raquel and Heine-Suner, Damian and Hestand, Matthew and Hooper, Stephen and Kates, Wendy and Kushan, Leila and Laorden-Nieto, Alejandra and Maeder, Johanna and Marino, Bruno and Marshall, Christian and McCabe, Kathryn and McDonald-McGinn, Donna and Michaelovosky, Elena and Morrow, Bernice and Moss, Edward and Mulle, Jennifer and Murphy, Declan and Murphy, Kieran and Murphy, Clodagh and Niarchou, Maria and Ornstein, Claudia and Owen, Michael and Philip, Nicole and Repetto, Gabriela and Schneider, Maude and Shashi, Vandana and Simon, Tony and Swillen, Ann and Tassone, Flora and Unolt, Marta and van Amelsvoort, Therese and van den Bree, Marianne and Van Duin, Esther and Vergaelen, Elfi and Vermeesch, Joris and Vicari, Stefano and Vingerhoets, Claudia and Vorstman, Jacob and Warren, Steve and Weinberger, Ronnie and Weisman, Omri and Weizman, Abraham and Zackai, Elaine and Zhang, Zhengdong and Zwick, Michael and Int 22q11 2 Brain & Behav Consort and International 22q11.2 Brain and Behavior Consortium
American Journal of Human Genetics, ISSN 0002-9297, 10/2017, Volume 101, Issue 4, pp. 616 - 622
Journal Article
REVISTA ESPANOLA DE CARDIOLOGIA, ISSN 0300-8932, 07/2018, Volume 71, Issue 7, pp. 545 - 552
Introduction and objectives: X-linked cardiac valvular dysplasia is a rare form of male-specific congenital heart defect mainly characterized by myxomatous... 
X-linked disease | Cardiac valvular dysplasia | CARDIAC & CARDIOVASCULAR SYSTEMS | COLLAGEN | FILAMIN-A MUTATIONS | PERIVENTRICULAR NODULAR HETEROTOPIA | FRONTOMETAPHYSEAL DYSPLASIA | GENE | DYSTROPHY | MARFAN-SYNDROME | DISEASE | FLNA mutation | SPLICE MUTATION | EHLERS-DANLOS-SYNDROME
Journal Article
by Demaerel, Wolfram and Hestand, Matthew and Hestand, Matthew S and Vergaelen, Elfi and Swillen, Ann and López-Sánchez, Marcos and Pérez-Jurado, Luis A and McDonald-McGinn, Donna M and McDonald-McGinn, Donna and Zackai, Elaine and Emanuel, Beverly S and Emanuel, Beverly and Morrow, Bernice and Morrow, Bernice E and Breckpot, Jeroen and Devriendt, Koenraad and Vermeesch, Joris R and Vermeesch, Joris and Antshel, Kevin and Arango, Celso and Armando, Marco and Bassett, Anne and Bearden, Carrie and Boot, Erik and Bravo-Sanchez, Marta and Breetvelt, Elemi and Busa, Tiffany and Butcher, Nancy and Campbell, Linda and Carmel, Miri and Chow, Eva and Crowley, T. Blaine and Cubells, Joseph and Cutler, David and Digilio, Maria Cristina and Duijff, Sasja and Eliez, Stephan and Epstein, Michael and Evers, Rens and Fernandez Garcia-Moya, Luis and Fiksinski, Ania and Fraguas, David and Fremont, Wanda and Fritsch, Rosemarie and Garcia-Minaur, Sixto and Golden, Aaron and Gothelf, Doron and Guo, Tingwei and Gur, Raquel and Gur, Ruben and Heine-Suner, Damian and Hooper, Stephen and Kates, Wendy and Kushan, Leila and Laorden-Nieto, Alejandra and Maeder, Johanna and Marino, Bruno and Marshall, Christian and McCabe, Kathryn and Michaelovosky, Elena and Moss, Edward and Mulle, Jennifer and Murphy, Clodagh and Murphy, Declan and Murphy, Kieran and Niarchou, Maria and Ornstein, Claudia and Owen, Michael and Philip, Nicole and Repetto, Gabriela and Schneider, Maude and Shashi, Vandana and Simon, Tony and Tassone, Flora and Unolt, Marta and van Amelsvoort, Therese and van den Bree, Marianne and Van Duin, Esther and Vicari, Stefano and Vingerhoets, Claudia and Vorstman, Jacob and Warren, Steve and Weinberger, Ronnie and Weisman, Omri and Weizman, Abraham and Zhang, Zhengdong and Zwick, Michael and International 22q11.2 Brain and Behavior Consortium
The American Journal of Human Genetics, ISSN 0002-9297, 09/2018, Volume 103, Issue 3, pp. 457 - 457
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 07/2015, Volume 23, Issue 7, pp. 907 - 914
Journal Article
American journal of medical genetics. Part A, ISSN 1552-4825, 2016, Volume 170, Issue 12, pp. 3069 - 3082
Journal Article
Human Mutation, ISSN 1059-7794, 08/2019, Volume 40, Issue 8, pp. 1013 - 1029
SATB2 ‐associated syndrome (SAS) is an autosomal dominant neurodevelopmental disorder caused by alterations in the SATB2 gene. Here we present a review of... 
associated syndrome | genotype‐phenotype correlation | pathogenic variants | SATB2 | whole exome sequencing | SATB2-associated syndrome | genotype-phenotype correlation | GENETICS & HEREDITY | Genetic aspects | Codon | Genes | Analysis | Animal models | Phenotypes | Reviews | Nonsense mutation | Coding | Stop codon | Neurodevelopmental disorders | Genotypes | Hereditary diseases | Index Medicus
Journal Article
Genetics in Medicine, ISSN 1098-3600, 08/2018, Volume 20, Issue 8, pp. 882 - 889
Journal Article