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Pediatric Dermatology, ISSN 0736-8046, 07/2015, Volume 32, Issue 4, pp. 558 - 561
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 05/2016, Volume 170, Issue 5, pp. 1196 - 1201
High quality information is critical for informed decision‐making in pregnancy following a prenatal diagnosis of sex chromosome aneuploidy. The goal of this... 
Turner syndrome | mosaicism | Mosaicism | ANEUPLOIDY | WOMEN | TURNER-SYNDROME | GENETICS & HEREDITY | Humans | Prenatal Diagnosis | Child, Preschool | Aneuploidy | Infant | Male | Turner Syndrome - diagnosis | Genetic Counseling | Pregnancy | Karyotyping | Sex Chromosomes - genetics | Adolescent | Turner Syndrome - genetics | Adult | Female | Child | Pregnancy Outcome | Turner Syndrome - pathology | Pregnant women | Analysis
Journal Article
by Amendola, Laura M and Dorschner, Michael O and Robertson, Peggy D and Salama, Joseph S and Hart, Ragan and Shirts, Brian H and Murray, Mitzi L and Tokita, Mari J and Gallego, Carlos J and Kim, Daniel Seung and Bennett, James T and Crosslin, David R and Ranchalis, Jane and Jones, Kelly L and Rosenthal, Elisabeth A and Jarvik, Ella R and Itsara, Andy and Turner, Emily H and Herman, Daniel S and Schleit, Jennifer and Burt, Amber and Jamal, Seema M and Abrudan, Jenica L and Johnson, Andrew D and Conlin, Laura K and Dulik, Matthew C and Santani, Avni and Metterville, Danielle R and Kelly, Melissa and Foreman, Ann Katherine M and Lee, Kristy and Taylor, Kent D and Guo, Xiuqing and Crooks, Kristy and Kiedrowski, Lesli A and Raffel, Leslie J and Gordon, Ora and Machini, Kalotina and Desnick, Robert J and Biesecker, Leslie G and Lubitz, Steven A and Mulchandani, Surabhi and Cooper, Greg M and Joffe, Steven and Richards, C. Sue and Yang, Yaoping and Rotter, Jerome I and Rich, Stephen S and O'Donnell, Christopher J and Berg, Jonathan S and Spinner, Nancy B and Evans, James P and Fullerton, Stephanie M and Leppig, Kathleen A and Bennett, Robin L and Bird, Thomas and Sybert, Virginia P and Grady, William M and Tabor, Holly K and Kim, Jerry H and Bamshad, Michael J and Wilfond, Benjamin and Motulsky, Arno G and Scott, C. Ronald and Pritchard, Colin C and Walsh, Tom D and Burke, Wylie and Raskind, Wendy H and Byers, Peter and Hisama, Fuki M and Rehm, Heidi and Nickerson, Debbie A and Jarvik, Gail P
Genome Research, ISSN 1088-9051, 03/2015, Volume 25, Issue 3, pp. 305 - 315
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 03/2019, Volume 179, Issue 3, pp. 442 - 447
An international advisory group met at the National Institutes of Health in Bethesda, Maryland in 2017, to discuss a new classification system for the... 
dysplasia | genetic | signaling pathway | molecular | classification | ectodermal | EDAR | ACCOUNT | WNT10A | DOMAIN | MUTATION | GENETICS & HEREDITY | Genetics | Dysplasia | Genetic aspects | Ectoderm | Phenotypes | Wnt protein | Nails | Glands | Teeth | Homeostasis | Classification systems | Zebrafish | Ectodysplasin | Heredity | Genetic diversity | Connexins | Genotypes
Journal Article
Dermatologic Clinics, ISSN 0733-8635, 04/2010, Volume 28, Issue 2, pp. 239 - 243
This article contains the author's views on genetic counseling in cases concerning the epidermolysis bullosa syndromes. The provision of genetic counseling... 
Recurrence | Genetic counseling | Prenatal diagnosis | Epidermolysis bullosa | DERMATOLOGY | Epidermolysis Bullosa - genetics | Humans | Prenatal Diagnosis | Risk Factors | Epidermolysis Bullosa - epidemiology | Referral and Consultation | Genetic Counseling | Epidermolysis Bullosa - diagnosis
Journal Article
Journal Article
Journal of the American Academy of Dermatology, ISSN 0190-9622, 2006, Volume 54, Issue 2, pp. S35 - S39
Journal Article