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Molecular Genetics and Metabolism, ISSN 1096-7192, 02/2015, Volume 114, Issue 2, pp. S103 - S103
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 08/2019, Volume 179, Issue 8, pp. 1415 - 1419
Incontinentia Pigmenti (IP; MIM 308300) is an X‐linked dominant genodermatosis caused by pathogenic variant in IKBKG. The phenotype in adults is poorly... 
phenotype | Incontinentia Pigmenti | ectodermal dysplasia | IKBKG | adult | BLOCH-SULZBERGER | ACTIVATION | GENETICS & HEREDITY | Dysplasia | Adults | Skin | Market surveys | Cataracts | Dentures | Jaw | Phenotypes | Nails | Retina | Cognition | Dental prosthetics | Polls & surveys | Genodermatosis | Intolerance | Surgery | Diagnosis | Microphthalmia
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2014, Volume 135, Issue 2, pp. 407 - 412
Journal Article
Reproductive Toxicology, ISSN 0890-6238, 09/2016, Volume 64, pp. 38 - 38
Journal Article
by Rojnueangnit, Kitiwan and Xie, Jing and Gomes, Alicia and Sharp, Angela and Callens, Tom and Chen, Yunjia and Liu, Ying and Cochran, Meagan and Abbott, Mary‐Alice and Atkin, Joan and Babovic‐Vuksanovic, Dusica and Barnett, Christopher P and Crenshaw, Melissa and Bartholomew, Dennis W and Basel, Lina and Bellus, Gary and Ben‐Shachar, Shay and Bialer, Martin G and Bick, David and Blumberg, Bruce and Cortes, Fanny and David, Karen L and Destree, Anne and Duat‐Rodriguez, Anna and Earl, Dawn and Escobar, Luis and Eswara, Marthanda and Ezquieta, Begona and Frayling, Ian M and Frydman, Moshe and Gardner, Kathy and Gripp, Karen W and Hernández‐Chico, Concepcion and Heyrman, Kurt and Ibrahim, Jennifer and Janssens, Sandra and Keena, Beth A and Llano‐Rivas, Isabel and Leppig, Kathy and McDonald, Marie and Misra, Vinod K and Mulbury, Jennifer and Narayanan, Vinodh and Orenstein, Naama and Galvin‐Parton, Patricia and Pedro, Helio and Pivnick, Eniko K and Powell, Cynthia M and Randolph, Linda and Raskin, Salmo and Rosell, Jordi and Rubin, Karol and Seashore, Margretta and Schaaf, Christian P and Scheuerle, Angela and Schultz, Meredith and Schorry, Elizabeth and Schnur, Rhonda and Siqveland, Elizabeth and Tkachuk, Amanda and Tonsgard, James and Upadhyaya, Meena and Verma, Ishwar C and Wallace, Stephanie and Williams, Charles and Zackai, Elaine and Zonana, Jonathan and Lazaro, Conxi and Claes, Kathleen and Korf, Bruce and Martin, Yolanda and Legius, Eric and Messiaen, Ludwine
Human Mutation, ISSN 1059-7794, 11/2015, Volume 36, Issue 11, pp. 1052 - 1063
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 10/2018, Volume 26, Issue 10, pp. 1521 - 1536
RASA1-related disorders are vascular malformation syndromes characterized by hereditary capillary malformations (CM) with or without arteriovenous... 
SIMULTANEOUS DELETION | MEF2C | HEREDITARY HEMORRHAGIC TELANGIECTASIA | PROTEIN | NEUROCUTANEOUS SYNDROME | WEBER-SYNDROME | VARIANTS | ANOMALIES | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | PHENOTYPE | MUTATIONS | Clonal deletion | Phenotypes | Hybridization
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 11/2019, Volume 179, Issue 11, pp. 2202 - 2206
Esophageal atresia (EA) with or without tracheoesophageal fistula (TEF) is a foregut defect that is a major component of the VATER/VACTERL association. The... 
VACTERL | VATER | esophageal atresia | tracheoesophageal fistula | Genetic aspects | Birth defects | Infants | Fistula, Tracheoesophageal | Phenotypes | Vertebrae | Trisomy | Congenital defects | Fistulae | Fistula | Genetic screening | Defects | Esophagus | Clonal deletion | Diagnosis | Foregut
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2015, Volume 135, Issue 2, pp. AB1 - AB1
  Data collected: rates of live births, spontaneous abortions, elective terminations, stillbirths, birth weight, gestational age, and congenital anomalies. 
Allergy and Immunology | Pregnant women | Pregnancy | Abortion | Birth weight
Journal Article
Journal of Craniofacial Surgery, ISSN 1049-2275, 09/2010, Volume 21, Issue 5, p. 1335
Journal Article
Journal of Craniofacial Surgery, ISSN 1049-2275, 09/2010, Volume 21, Issue 5, pp. 1319 - 1320
Journal Article
Journal of Craniofacial Surgery, ISSN 1049-2275, 2017, Volume 28, Issue 2, pp. 308 - 308
Journal Article
Birth Defects Research Part A: Clinical and Molecular Teratology, ISSN 1542-0752, 11/2016, Volume 106, Issue 11, pp. 935 - 939
Journal Article
by Chong, Jessica X and McMillin, Margaret J and Shively, Kathryn M and Beck, Anita E and Marvin, Colby T and Armenteros, Jose R and Buckingham, Kati J and Nkinsi, Naomi T and Boyle, Evan A and Berry, Margaret N and Bocian, Maureen and Foulds, Nicola and Uzielli, Maria Luisa Giovannucci and Haldeman-Englert, Chad and Hennekam, Raoul C.M and Kaplan, Paige and Kline, Antonie D and Mercer, Catherine L and Nowaczyk, Malgorzata J.M and Klein Wassink-Ruiter, Jolien S and McPherson, Elizabeth W and Moreno, Regina A and Scheuerle, Angela E and Shashi, Vandana and Stevens, Cathy A and Carey, John C and Monteil, Arnaud and Lory, Philippe and Tabor, Holly K and Smith, Joshua D and Shendure, Jay and Nickerson, Deborah A and Bamshad, Michael J and Bamshad, Michael J and Abecasis, Gonçalo R and Anderson, Peter and Blue, Elizabeth Marchani and Annable, Marcus and Browning, Brian L and Chen, Christina and Chin, Jennifer and Cooper, Gregory M and Davis, Colleen P and Frazar, Christopher and Harrell, Tanya M and He, Zongxiao and Jain, Preti and Jarvik, Gail P and Jimenez, Guillaume and Johanson, Eric and Jun, Goo and Kircher, Martin and Kolar, Tom and Krauter, Stephanie A and Krumm, Niklas and Leal, Suzanne M and Luksic, Daniel and McGee, Sean and O’Reilly, Patrick and Paeper, Bryan and Patterson, Karynne and Perez, Marcos and Phillips, Sam W and Pijoan, Jessica and Poel, Christa and Reinier, Frederic and Robertson, Peggy D and Santos-Cortez, Regie and Shaffer, Tristan and Shephard, Cindy and Siegel, Deborah L and Staples, Jeffrey C and Tackett, Monica and Underwood, Jason G and Wegener, Marc and Wang, Gao and Wheeler, Marsha M and Yi, Qian and Univ Washington and University of Washington Center for Mendelian Genomics
The American Journal of Human Genetics, ISSN 0002-9297, 03/2015, Volume 96, Issue 3, pp. 462 - 473
Journal Article
Birth Defects Research Part A: Clinical and Molecular Teratology, ISSN 1542-0752, 11/2015, Volume 103, Issue 11, pp. 913 - 927
Journal Article
Arthritis & Rheumatology, ISSN 2326-5191, 09/2018, Volume 70, Issue 9, pp. 1399 - 1407
Journal Article
Genetics in Medicine, ISSN 1098-3600, 12/2007, Volume 9, Issue 12, pp. 856 - 856
Journal Article
Human Mutation, ISSN 1059-7794, 02/2014, Volume 35, Issue 2, pp. 165 - 177
Journal Article