المؤلفون: Verberne, EA, Goh, SX, England, J, van Ginkel, M, Rafael-Croes, L, Maas, S, Polstra, A, Zarate, YA, Bosanko, KA, Pechter, KB, Bedoukian, E, Izumi, K, Chaudhry, A, Robin, NH, Boothe, M, Lippa, NC, Aggarwal, V, De Vivo, DC, Lehman, A, Stockler, S, Bruel, AL, Isidor, B, Lemons, J, Rodriguez-Buritica, DF, Richmond, CM, Stark, Z, Agrawal, PB, Kooy, RF, Meuwissen, MEC, Koolen, DA, Pfundt, R, Lieden, A, Anderlid, BM, Glatz, D, Mannens, MMAM, Bakshi, M, Mallette, FA, van Haelst, MM, Campeau, PM

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 23(2):374-383

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:144987546

المؤلفون: Hoover-Fong JE, Schulze KJ, Alade AY, Bober MB, Gough E, Hashmi SS, Hecht JT, Legare JM, Little ME, Modaff P, Pauli RM, Rodriguez-Buritica DF, Serna ME, Smid C, Liu C, McGready J

المصدر: Yearbook of Paediatric Endocrinology.

مصطلحات موضوعية: General Economics, Econometrics and Finance

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::e2d55e519656bee2a5104202074e0268
https://doi.org/10.1530/ey.19.5.8

المؤلفون: Rodriguez-Buritica, DF, Kruger, E, Tierney, M, Dusendang, JR, Stubbe, C, Saavedra, H, Gupta, RN, Thomas, NA, Grimm, AA

المصدر: In Value in Health December 2022 25(12) Supplement:S457-S457

المؤلفون: Campbell J; 1Nemours Children's Hospital, Thomas Jefferson University, Wilmington, Delaware., Legare JM; 2Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin., Piatt J; 1Nemours Children's Hospital, Thomas Jefferson University, Wilmington, Delaware., Gough E; 3Department of Epidemiology, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, Maryland., Pauli RM; 2Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin., Hashmi SS; 5McGovern Medical School at University of Texas Health, Houston, Texas., Rodriguez-Buritica DF; 5McGovern Medical School at University of Texas Health, Houston, Texas., Modaff P; 2Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin., Little ME; 1Nemours Children's Hospital, Thomas Jefferson University, Wilmington, Delaware., Serna ME; 5McGovern Medical School at University of Texas Health, Houston, Texas., Smid CJ; 2Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin., Dujmusic L; 2Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin., Hecht JT; 5McGovern Medical School at University of Texas Health, Houston, Texas., Hoover-Fong JE; 4Department of Genetic Medicine, Greenberg Center for Skeletal Dysplasias, Johns Hopkins University, Baltimore, Maryland; and., Bober MB; 1Nemours Children's Hospital, Thomas Jefferson University, Wilmington, Delaware.

المصدر: Journal of neurosurgery. Pediatrics [J Neurosurg Pediatr] 2023 Sep 15; Vol. 32 (6), pp. 649-656. Date of Electronic Publication: 2023 Sep 15 (Print Publication: 2023).

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

بيانات الدورية: Publisher: American Association of Neurological Surgeons Country of Publication: United States NLM ID: 101463759 Publication Model: Electronic-Print Cited Medium: Internet ISSN: 1933-0715 (Electronic) Linking ISSN: 19330707 NLM ISO Abbreviation: J Neurosurg Pediatr Subsets: MEDLINE

مواضيع طبية MeSH: Hydrocephalus*/diagnostic imaging , Hydrocephalus*/epidemiology , Hydrocephalus*/etiology , Achondroplasia*/complications , Achondroplasia*/epidemiology , Third Ventricle*/diagnostic imaging , Third Ventricle*/surgery , Neuroendoscopy*/adverse effects, Child ; Humans ; Infant ; Treatment Outcome ; Ventriculostomy/adverse effects ; Retrospective Studies

المؤلفون: Brar BK; Division of Maternal - Fetal Medicine, Department of Gynecology and Obstetrics, Johns Hopkins University, Baltimore, MD; Greenberg Center for Skeletal Dysplasias, Department of Genetic Medicine, Johns Hopkins University, Baltimore, MD. Electronic address: bbrar1@jhu.edu., Bober MB; Nemours/A.I. duPont Hospital for Children, Wilmington, DE., Gough E; Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD., Hashmi SS; McGovern Medical School, University of Texas Health, Houston, TX., Hecht JT; McGovern Medical School, University of Texas Health, Houston, TX., Dujmusic L; University of Wisconsin School of Medicine and Public Health, Madison, WI., Little ME; Nemours/A.I. duPont Hospital for Children, Wilmington, DE., Modaff P; University of Wisconsin School of Medicine and Public Health, Madison, WI., Pauli RM; University of Wisconsin School of Medicine and Public Health, Madison, WI., Rodriguez-Buritica DF; McGovern Medical School, University of Texas Health, Houston, TX., Serna ME; McGovern Medical School, University of Texas Health, Houston, TX., Smid C; University of Wisconsin School of Medicine and Public Health, Madison, WI., Legare JM; University of Wisconsin School of Medicine and Public Health, Madison, WI., Hoover-Fong JE; Greenberg Center for Skeletal Dysplasias, Department of Genetic Medicine, Johns Hopkins University, Baltimore, MD.

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2023 Jul; Vol. 25 (7), pp. 100845. Date of Electronic Publication: 2023 Apr 12.

نوع المنشور: Multicenter Study; Journal Article; Comment

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: Cesarean Section* , Achondroplasia*/surgery , Achondroplasia*/complications, Pregnancy ; Female ; Humans ; Cohort Studies ; Fetus ; Morbidity ; Retrospective Studies

المؤلفون: Nahm NJ; Department of Orthopedics, Gillette Children's Specialty Healthcare, Saint Paul, MN, USA., Mackenzie WGS; Nemours Children's Hospital, DE, Wilmington, DE, USA., Mackenzie WG; Nemours Children's Hospital, DE, Wilmington, DE, USA., Gough E; Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD, USA., Hashmi SS; Department of Pediatrics, McGovern Medical School UTHealth, Houston, TX, USA., Hecht JT; Department of Pediatrics, McGovern Medical School UTHealth, Houston, TX, USA., Legare JM; Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, WI, USA., Little ME; Nemours Children's Hospital, DE, Wilmington, DE, USA., Modaff P; Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, WI, USA., Pauli RM; Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, WI, USA., Rodriguez-Buritica DF; Department of Pediatrics, McGovern Medical School UTHealth, Houston, TX, USA., Serna ME; Department of Pediatrics, McGovern Medical School UTHealth, Houston, TX, USA., Smid CJ; Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, WI, USA., Hoover-Fong J; Greenberg Center for Skeletal Dysplasias, Department of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA., Bober MB; Nemours Children's Hospital, DE, Wilmington, DE, USA. mbober@nemours.org.

المصدر: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Jun 06; Vol. 18 (1), pp. 139. Date of Electronic Publication: 2023 Jun 06.

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

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

مواضيع طبية MeSH: Orthopedic Procedures* , Achondroplasia*/surgery , Achondroplasia*/complications , Hydrocephalus*/complications , Hydrocephalus*/surgery, Humans ; Adolescent ; Child ; Young Adult ; Adult ; Infant ; Child, Preschool ; Decompression, Surgical/methods ; Retrospective Studies

المؤلفون: Udo EQ; Department of Pediatrics, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas, USA., Truly T; Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas, USA., Peters A; Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas, USA., Prakash SK; Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas, USA., Rivera M; Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas, USA., Rodriguez-Buritica DF; Department of Pediatrics, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas, USA.

المصدر: Cytogenetic and genome research [Cytogenet Genome Res] 2023; Vol. 163 (5-6), pp. 290-294. Date of Electronic Publication: 2023 Dec 21.

نوع المنشور: Journal Article; News

بيانات الدورية: Publisher: S. Karger Country of Publication: Switzerland NLM ID: 101142708 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1424-859X (Electronic) Linking ISSN: 14248581 NLM ISO Abbreviation: Cytogenet Genome Res Subsets: MEDLINE

مواضيع طبية MeSH: Turner Syndrome*/genetics , Turner Syndrome*/complications , Chromosomes, Human, Y*/genetics, Humans ; Female ; Adult ; Polymorphism, Single Nucleotide ; Chromosomes, Human, X/genetics ; Mosaicism ; Adolescent ; Heart Defects, Congenital/genetics ; Karyotype ; Bicuspid Aortic Valve Disease/genetics ; Bicuspid Aortic Valve Disease/complications ; Karyotyping ; Child ; Cohort Studies ; Genetic Association Studies ; Young Adult ; Aortic Valve/abnormalities

المؤلفون: Vash-Margita A; Divisions of Pediatric and Adolescent Gynecology and Reproductive Sciences, Department of Obstetrics, Gynecology and Reproductive Sciences, Yale School of Medicine, Yale New Haven, Children Hospital., Szymanska-Vandendriessche K; Divisions of Pediatric and Adolescent Gynecology and Reproductive Sciences, Department of Obstetrics, Gynecology and Reproductive Sciences, Yale School of Medicine, Yale New Haven, Children Hospital., Gunther K; Division of Medical Genetics, Department of Pediatrics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth Houston) and Children's Memorial Hermann Hospital, Houston, Texas., Rodriguez-Buritica DF; Division of Medical Genetics, Department of Pediatrics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth Houston) and Children's Memorial Hermann Hospital, Houston, Texas., Christison-Lagay E; Division of Pediatric Surgery, Department of Surgery, Yale School of Medicine, Yale New Haven, Children Hospital., Saluja S; Division of Pediatric Surgery, Department of Surgery, Yale School of Medicine, Yale New Haven, Children Hospital., Oktay KH; Divisions of Pediatric and Adolescent Gynecology and Reproductive Sciences, Department of Obstetrics, Gynecology and Reproductive Sciences, Yale School of Medicine, Yale New Haven, Children Hospital; Innovation Institute for Fertility Preservation. Electronic address: correspondence@fertilitypreservation.org.

المصدر: Fertility and sterility [Fertil Steril] 2022 Nov; Vol. 118 (5), pp. 982-984. Date of Electronic Publication: 2022 Sep 22.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Elsevier for the American Society for Reproductive Medicine Country of Publication: United States NLM ID: 0372772 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1556-5653 (Electronic) Linking ISSN: 00150282 NLM ISO Abbreviation: Fertil Steril Subsets: MEDLINE

مواضيع طبية MeSH: Galactosemias*/complications , Galactosemias*/diagnosis , Galactosemias*/surgery , Fertility Preservation*/methods , Laparoscopy* , Infertility*/pathology, Humans ; Infant ; Female ; Child, Preschool ; Ovary/metabolism ; Anti-Mullerian Hormone/metabolism ; Cryopreservation/methods ; Follicle Stimulating Hormone ; Estradiol/metabolism ; Luteinizing Hormone

المؤلفون: Langley E; Division of Medical Genetics, Department of Pediatrics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth Houston) and Children's Memorial Hermann Hospital, Houston, Texas, USA., Farach LS; Division of Medical Genetics, Department of Pediatrics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth Houston) and Children's Memorial Hermann Hospital, Houston, Texas, USA., Koenig MK; Division of Child and Adolescent Neurology, Department of Pediatrics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth Houston) and Children's Memorial Hermann Hospital, Houston, Texas, USA., Northrup H; Division of Medical Genetics, Department of Pediatrics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth Houston) and Children's Memorial Hermann Hospital, Houston, Texas, USA., Rodriguez-Buritica DF; Division of Medical Genetics, Department of Pediatrics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth Houston) and Children's Memorial Hermann Hospital, Houston, Texas, USA., Mowrey K; Division of Medical Genetics, Department of Pediatrics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth Houston) and Children's Memorial Hermann Hospital, Houston, Texas, USA.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2022 Jun; Vol. 188 (6), pp. 1688-1692. Date of Electronic Publication: 2022 Feb 10.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: Intellectual Disability*/diagnosis , Intellectual Disability*/genetics , Intellectual Disability*/metabolism , Nerve Tissue Proteins*/genetics , Nerve Tissue Proteins*/metabolism, Asian People/genetics ; Female ; Genes, X-Linked ; Humans ; Male ; Republic of Korea

المؤلفون: Vara A; The University of Texas MD Anderson Cancer Center UTHealth Graduate School of Biomedical Sciences, Houston, Texas, USA.; Department of Clinical Cancer Genetics, The University of Texas MD Anderson Cancer Center, Houston, Texas, USA., Smith JL; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Hashmi SS; Division of Medical Genetic, Department of Pediatrics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth Houston) and Children's Memorial Hermann Hospital, Houston, Texas, USA., Wagner VF; Division of Medical Genetic, Department of Pediatrics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth Houston) and Children's Memorial Hermann Hospital, Houston, Texas, USA.; Clinical Operations, Color Health Inc., Burlingame, California, USA., Gunther K; Division of Medical Genetic, Department of Pediatrics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth Houston) and Children's Memorial Hermann Hospital, Houston, Texas, USA., Rodriguez-Buritica DF; Division of Medical Genetic, Department of Pediatrics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth Houston) and Children's Memorial Hermann Hospital, Houston, Texas, USA.

المصدر: Cytogenetic and genome research [Cytogenet Genome Res] 2022; Vol. 162 (11-12), pp. 599-608. Date of Electronic Publication: 2023 May 18.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: S. Karger Country of Publication: Switzerland NLM ID: 101142708 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1424-859X (Electronic) Linking ISSN: 14248581 NLM ISO Abbreviation: Cytogenet Genome Res Subsets: PubMed not MEDLINE; MEDLINE