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Journal of Genetic Counseling, ISSN 1059-7700, 04/2019, Volume 28, Issue 2, pp. 181 - 181
Journal Article
Pediatrics, ISSN 0031-4005, 12/2012, Volume 130, Issue 6, pp. 1126 - 1135
Fragile X syndrome, diagnosed by Fragile X Mental Retardation 1 (FMR1) DNA testing, is the most common single-gene cause of inherited intellectual disability.... 
Newborn screening | Fragile X-associated disorders | FMR1 mutations | Fragile X syndrome | Genetic testing recommendations | Genetic screening | COST-EFFECTIVENESS ANALYSIS | MENTAL-RETARDATION | fragile X syndrome | fragile X-associated disorders | EXPANDED ALLELES | KNOCKOUT MICE | genetic screening | POLYMERASE-CHAIN-REACTION | TREMOR/ATAXIA SYNDROME | genetic testing recommendations | FULL MUTATION | CGG REPEAT | PEDIATRICS | newborn screening | FMR1 GENE | PRENATAL-DIAGNOSIS | Humans | Child, Preschool | Patient Care Team | Infant | Male | Neonatal Screening | Trinucleotide Repeats - genetics | DNA Mutational Analysis | Polymerase Chain Reaction | Adult | Female | Attention Deficit Disorder with Hyperactivity - diagnosis | Ataxia - genetics | Autistic Disorder - diagnosis | Child | Infant, Newborn | Autistic Disorder - genetics | Fragile X Syndrome - genetics | Genetic Predisposition to Disease - genetics | Cooperative Behavior | Tremor - diagnosis | Ataxia - diagnosis | Mice, Knockout | Interdisciplinary Communication | Animals | Attention Deficit Disorder with Hyperactivity - genetics | Adolescent | Alleles | Primary Ovarian Insufficiency - diagnosis | Primary Ovarian Insufficiency - genetics | Sex Factors | Tremor - genetics | Fragile X Mental Retardation Protein - genetics | Mice | Models, Genetic | Referral and Consultation | Early Diagnosis | Genetic Carrier Screening | Fragile X Syndrome - diagnosis | Infants (Newborn) | Medical examination | Genetic aspects | Forecasts and trends | Diagnosis | Standards | Pediatrics | Genetic disorders | Genetic testing | Mutation | Medical screening | Medical diagnosis | Mental retardation
Journal Article
Fertility and Sterility, ISSN 0015-0282, 2007, Volume 87, Issue 3, pp. 456 - 465
Journal Article
by Sen, Partha and Yang, Yaping and Navarro, Colby and Silva, Iris and Szafranski, Przemyslaw and Kolodziejska, Katarzyna E and Dharmadhikari, Avinash V and Mostafa, Hasnaa and Kozakewich, Harry and Kearney, Debra and Cahill, John B and Whitt, Merrissa and Bilic, Masha and Margraf, Linda and Charles, Adrian and Goldblatt, Jack and Gibson, Kathleen and Lantz, Patrick E and Garvin, A. Julian and Petty, John and Kiblawi, Zeina and Zuppan, Craig and McConkie‐Rosell, Allyn and McDonald, Marie T and Peterson‐Carmichael, Stacey L and Gaede, Jane T and Shivanna, Binoy and Schady, Deborah and Friedlich, Philippe S and Hays, Stephen R and Palafoll, Irene Valenzuela and Siebers‐Renelt, Ulrike and Bohring, Axel and Finn, Laura S and Siebert, Joseph R and Galambos, Csaba and Nguyen, Lananh and Riley, Melissa and Chassaing, Nicolas and Vigouroux, Adeline and Rocha, Gustavo and Fernandes, Susana and Brumbaugh, Jane and Roberts, Kari and Ho‐ming, Luk and Lo, Ivan F. M and Lam, Stephen and Gerychova, Romana and Jezova, Marta and Valaskova, Iveta and Fellmann, Florence and Afshar, Katayoun and Giannoni, Eric and Muhlethaler, Vincent and Liang, Jinlong and Beckmann, Jacques S and Lioy, Janet and Deshmukh, Hitesh and Srinivasan, Lakshmi and Swarr, Daniel T and Sloman, Melissa and Shaw‐Smith, Charles and Loon, Rosa Laura and Hagman, Cecilia and Sznajer, Yves and Barrea, Catherine and Galant, Christine and Detaille, Thierry and Wambach, Jennifer A and Cole, F. Sessions and Hamvas, Aaron and Prince, Lawrence S and Diderich, Karin E.M and Brooks, Alice S and Verdijk, Robert M and Ravindranathan, Hari and Sugo, Ella and Mowat, David and Baker, Michael L and Langston, Claire and Welty, Stephen and Stankiewicz, Pawel and Paediatrics (Lund) and Lund University and Lunds universitet and Pediatrik, Lund
Human Mutation, ISSN 1059-7794, 06/2013, Volume 34, Issue 6, pp. 801 - 811
Journal Article
Journal of Genetic Counseling, ISSN 1059-7700, 8/2018, Volume 27, Issue 4, pp. 935 - 946
Journal Article
Journal of Genetic Counseling, ISSN 1059-7700, 12/2012, Volume 21, Issue 6, pp. 752 - 760
Journal Article
Clinical genetics, ISSN 0009-9163, 08/2019
While genomic sequencing (ES/GS) has the potential to diagnose children with difficult to diagnose phenotypes, the goal should be not only a diagnosis, but... 
Journal Article
Journal Article
Journal Article