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المؤلفون: Potter SN; RTI International, Research Triangle Park, Durham, NC 22709, USA., Migliore B; RTI International, Research Triangle Park, Durham, NC 22709, USA., Carter J; RTI International, Research Triangle Park, Durham, NC 22709, USA., Copeland VR; RTI International, Research Triangle Park, Durham, NC 22709, USA., Smith EC; Department of Pediatrics, Duke University, Durham, NC 27710, USA., Peay HL; RTI International, Research Triangle Park, Durham, NC 22709, USA., Kucera KS; RTI International, Research Triangle Park, Durham, NC 22709, USA.

المصدر: International journal of neonatal screening [Int J Neonatal Screen] 2024 Jun 19; Vol. 10 (2). Date of Electronic Publication: 2024 Jun 19.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101665400 Publication Model: Electronic Cited Medium: Internet ISSN: 2409-515X (Electronic) Linking ISSN: 2409515X NLM ISO Abbreviation: Int J Neonatal Screen Subsets: PubMed not MEDLINE

المؤلفون: Sadhwani A; Department of Psychiatry and Behavioral Services, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. Anjali.sadhwani@childrens.harvard.edu.; Department of Psychiatry and Behavioral Services, Boston Children's Hospital, 300 Longwood Avenue, Boston, MA, 02115, USA. Anjali.sadhwani@childrens.harvard.edu., Powers S; RTI International, Research Triangle Park, NC, USA.; Edmentum, Minneapolis, MN, USA., Wheeler A; RTI International, Research Triangle Park, NC, USA., Miller H; Harvard T.H. Chan School of Public Health, Boston, MA, USA.; Aetna, Hartford, CT, USA., Potter SN; RTI International, Research Triangle Park, NC, USA., Peters SU; Vanderbilt University School of Medicine, Nashville, TN, USA., Bacino CA; Kleberg Genetics Clinic, Texas Children's Hospital, Baylor College of Medicine, Houston, TX, USA., Skinner SA; Greenwood Genetic Center, Greenwood, SC, USA., Wink LK; Division of Child Psychiatry, Cincinnati Children's Hospital Medical Center, Cincinnati, USA.; Talkiatry Management Services, LLC, New York, USA., Erickson CA; Division of Child Psychiatry, Cincinnati Children's Hospital Medical Center, Cincinnati, USA., Bird LM; University of California San Diego and Rady Children's Hospital, San Diego, CA, USA., Tan WH; Department of Psychiatry and Behavioral Services, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, United States.

المصدر: Journal of neurodevelopmental disorders [J Neurodev Disord] 2024 Jun 15; Vol. 16 (1), pp. 32. Date of Electronic Publication: 2024 Jun 15.

نوع المنشور: Journal Article; Multicenter Study

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101483832 Publication Model: Electronic Cited Medium: Internet ISSN: 1866-1955 (Electronic) Linking ISSN: 18661947 NLM ISO Abbreviation: J Neurodev Disord Subsets: MEDLINE

مواضيع طبية MeSH: Angelman Syndrome*/physiopathology , Angelman Syndrome*/genetics , Angelman Syndrome*/complications , Activities of Daily Living* , Child Development*/physiology, Humans ; Female ; Child, Preschool ; Male ; Child ; Adolescent ; Infant ; Longitudinal Studies ; Motor Skills/physiology ; Developmental Disabilities/etiology ; Adult ; Young Adult

المؤلفون: Potter SN; RTI International, 3040 E. Cornwallis Road, Research Triangle Park, NC 27709-2194, USA., Reynolds E; RTI International, Research Triangle Park, NC, USA., Okoniewski KC; RTI International, Research Triangle Park, NC, USA., Edwards A; RTI International, Research Triangle Park, NC, USA., Gable J; RTI International, Research Triangle Park, NC, USA., Hill C; RTI International, Research Triangle Park, NC, USA., Bakalov V; RTI International, Research Triangle Park, NC, USA., Zentz S; RTI International, Research Triangle Park, NC, USA., Whiting C; RTI International, Research Triangle Park, NC, USA., Cheves E; RTI International, Research Triangle Park, NC, USA., Garbarini K; Angelman Syndrome Foundation, Aurora, IL, USA.; Dup15q Alliance, Matthews, NC, USA., Jalazo E; Department of Pediatrics, The University of North Carolina School of Medicine, Chapel Hill, NC, USA., Howell C; Dup15q Alliance, Matthews, NC, USA., Moore A; Angelman Syndrome Foundation, Aurora, IL, USA., Wheeler A; RTI International, Research Triangle Park, NC, USA.

المصدر: Therapeutic advances in rare disease [Ther Adv Rare Dis] 2024 May 27; Vol. 5, pp. 26330040241254122. Date of Electronic Publication: 2024 May 27 (Print Publication: 2024).

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Sage Country of Publication: England NLM ID: 9918557474706676 Publication Model: eCollection Cited Medium: Internet ISSN: 2633-0040 (Electronic) Linking ISSN: 26330040 NLM ISO Abbreviation: Ther Adv Rare Dis Subsets: PubMed not MEDLINE

المؤلفون: Andrews SM; Sara M. Andrews, RTI International., Panjwani AA; Anita A. Panjwani, Purdue University., Potter SN; Sarah Nelson Potter, RTI International., Hamrick LR; Lisa R. Hamrick, Purdue University., Wheeler AC; Anne C. Wheeler, RTI International., Kelleher BL; Bridgette L. Kelleher, Purdue University.

المصدر: American journal on intellectual and developmental disabilities [Am J Intellect Dev Disabil] 2024 May 01; Vol. 129 (3), pp. 175-190.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: American Association on Intellectual and Developmental Disabilities Country of Publication: United States NLM ID: 101492916 Publication Model: Print Cited Medium: Internet ISSN: 1944-7558 (Electronic) Linking ISSN: 19447558 NLM ISO Abbreviation: Am J Intellect Dev Disabil Subsets: MEDLINE

مواضيع طبية MeSH: Hyperphagia* , Prader-Willi Syndrome*/diagnosis , Angelman Syndrome*/physiopathology , Angelman Syndrome*/diagnosis, Humans ; Child, Preschool ; Male ; Female ; Child

المؤلفون: Potter SN; MIND Institute, UC Davis Health, Sacramento, CA.; Department of Psychiatry and Behavioral Sciences, UC Davis Health, Sacramento, CA., Harvey D; Department of Public Health Sciences, UC Davis Health, Sacramento, CA., Sterling A; Waisman Center, University of Wisconsin-Madison.; Department of Communication Sciences and Disorders, University of Wisconsin-Madison., Abbeduto L; MIND Institute, UC Davis Health, Sacramento, CA.; Department of Psychiatry and Behavioral Sciences, UC Davis Health, Sacramento, CA.

المصدر: Journal of speech, language, and hearing research : JSLHR [J Speech Lang Hear Res] 2024 Mar 11; Vol. 67 (3), pp. 939-959. Date of Electronic Publication: 2024 Feb 26.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: American Speech-Language-Hearing Association Country of Publication: United States NLM ID: 9705610 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1558-9102 (Electronic) Linking ISSN: 10924388 NLM ISO Abbreviation: J Speech Lang Hear Res Subsets: MEDLINE

مواضيع طبية MeSH: Fragile X Syndrome*, Male ; Female ; Child ; Humans ; Adolescent ; Parents ; Parent-Child Relations ; Mothers ; Mother-Child Relations ; Communication ; Fathers

المؤلفون: Kucera KS; RTI International, Research Triangle Park, Durham, NC. Electronic address: kkucera@rti.org., Boyea BL; RTI International, Research Triangle Park, Durham, NC., Migliore B; RTI International, Research Triangle Park, Durham, NC., Potter SN; RTI International, Research Triangle Park, Durham, NC., Robles VR; RTI International, Research Triangle Park, Durham, NC., Kutsa O; RTI International, Research Triangle Park, Durham, NC., Cope H; RTI International, Research Triangle Park, Durham, NC., Okoniewski KC; RTI International, Research Triangle Park, Durham, NC., Wheeler A; RTI International, Research Triangle Park, Durham, NC., Rehder CW; Department of Pathology, Duke University, Durham, NC., Smith EC; Department of Pediatrics, Duke University, Durham, NC., Peay HL; RTI International, Research Triangle Park, Durham, NC.

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Jan; Vol. 26 (1), pp. 101009. Date of Electronic Publication: 2023 Oct 17.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

مواضيع طبية MeSH: Muscular Dystrophy, Duchenne*/diagnosis , Muscular Dystrophy, Duchenne*/epidemiology , Muscular Dystrophy, Duchenne*/genetics, Male ; Humans ; Infant, Newborn ; Neonatal Screening ; Birth Weight ; North Carolina/epidemiology ; Prospective Studies ; Creatine Kinase