يعرض 1 - 10 نتائج من 16,955 نتيجة بحث عن '"ehlers-danlos"', وقت الاستعلام: 1.15s تنقيح النتائج
  1. 1
    دورية أكاديمية

    المؤلفون: Demirdas S; Department of Clinical Genetics, Cardiovascular Institute, Erasmus Medical Center, University Medical Center, Rotterdam, the Netherlands (S.D., L.M.v.d.B., R.L., D.M.-K., H.T.B., I.M.B.H.v.d.L.).; European Reference Network ReCONNET, Ehlers Danlos Syndrome Working Group, Rotterdam, the Netherlands (S.D.)., van den Bersselaar LM; Department of Clinical Genetics, Cardiovascular Institute, Erasmus Medical Center, University Medical Center, Rotterdam, the Netherlands (S.D., L.M.v.d.B., R.L., D.M.-K., H.T.B., I.M.B.H.v.d.L.)., Lechner R; Department of Clinical Genetics, Cardiovascular Institute, Erasmus Medical Center, University Medical Center, Rotterdam, the Netherlands (S.D., L.M.v.d.B., R.L., D.M.-K., H.T.B., I.M.B.H.v.d.L.)., Bos J; Department of Human Genetics, Amsterdam University Medical Center, Vrije Universiteit Amsterdam, the Netherlands (J.B., S.I.M.A., M.J.H.B., S.N.v.d.C., F.L.K., E.O., A.M., A.C.H.).; Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, the Netherlands (J.B., S.I.M.A., M.J.H.B., S.N.v.d.C., F.L.K., E.O., A.C.H.)., Alsters SIM; Department of Human Genetics, Amsterdam University Medical Center, Vrije Universiteit Amsterdam, the Netherlands (J.B., S.I.M.A., M.J.H.B., S.N.v.d.C., F.L.K., E.O., A.M., A.C.H.).; Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, the Netherlands (J.B., S.I.M.A., M.J.H.B., S.N.v.d.C., F.L.K., E.O., A.C.H.)., Baars MJH; Department of Human Genetics, Amsterdam University Medical Center, Vrije Universiteit Amsterdam, the Netherlands (J.B., S.I.M.A., M.J.H.B., S.N.v.d.C., F.L.K., E.O., A.M., A.C.H.).; Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, the Netherlands (J.B., S.I.M.A., M.J.H.B., S.N.v.d.C., F.L.K., E.O., A.C.H.)., Baas AF; Department of Genetics, University Medical Center Utrecht, the Netherlands (A.F.B., N.A.A.G., P.J.v.T.)., Baysal Ö; Department of Human Genetics, Radboud University Nijmegen Medical Center, the Netherlands (O.B., M.J.E.K., B.L., C.W.O., M.V.)., van der Crabben SN; Department of Human Genetics, Amsterdam University Medical Center, Vrije Universiteit Amsterdam, the Netherlands (J.B., S.I.M.A., M.J.H.B., S.N.v.d.C., F.L.K., E.O., A.M., A.C.H.).; Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, the Netherlands (J.B., S.I.M.A., M.J.H.B., S.N.v.d.C., F.L.K., E.O., A.C.H.)., Dulfer E; Department of Genetics, University Medical Center Groningen, the Netherlands (E.D., E.O.)., Giesbertz NAA; Department of Genetics, University Medical Center Utrecht, the Netherlands (A.F.B., N.A.A.G., P.J.v.T.)., Helderman-van den Enden ATJM; Clinical Genetics, Maastricht University Medical Center, the Netherlands (A.T.J.M.H.-v.d.E.)., Hilhorst-Hofstee Y; Department of Clinical Genetics, Leiden University Medical Center, the Netherlands (Y.H.-H.)., Kempers MJE; Department of Human Genetics, Radboud University Nijmegen Medical Center, the Netherlands (O.B., M.J.E.K., B.L., C.W.O., M.V.)., Komdeur FL; Department of Human Genetics, Amsterdam University Medical Center, Vrije Universiteit Amsterdam, the Netherlands (J.B., S.I.M.A., M.J.H.B., S.N.v.d.C., F.L.K., E.O., A.M., A.C.H.).; Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, the Netherlands (J.B., S.I.M.A., M.J.H.B., S.N.v.d.C., F.L.K., E.O., A.C.H.)., Loeys B; Department of Human Genetics, Radboud University Nijmegen Medical Center, the Netherlands (O.B., M.J.E.K., B.L., C.W.O., M.V.)., Majoor-Krakauer D; Department of Clinical Genetics, Cardiovascular Institute, Erasmus Medical Center, University Medical Center, Rotterdam, the Netherlands (S.D., L.M.v.d.B., R.L., D.M.-K., H.T.B., I.M.B.H.v.d.L.)., Ockeloen CW; Department of Human Genetics, Radboud University Nijmegen Medical Center, the Netherlands (O.B., M.J.E.K., B.L., C.W.O., M.V.)., Overwater E; Department of Human Genetics, Amsterdam University Medical Center, Vrije Universiteit Amsterdam, the Netherlands (J.B., S.I.M.A., M.J.H.B., S.N.v.d.C., F.L.K., E.O., A.M., A.C.H.).; Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, the Netherlands (J.B., S.I.M.A., M.J.H.B., S.N.v.d.C., F.L.K., E.O., A.C.H.).; Department of Genetics, University Medical Center Groningen, the Netherlands (E.D., E.O.)., van Tintelen PJ; Department of Genetics, University Medical Center Utrecht, the Netherlands (A.F.B., N.A.A.G., P.J.v.T.)., Voorendt M; Department of Human Genetics, Radboud University Nijmegen Medical Center, the Netherlands (O.B., M.J.E.K., B.L., C.W.O., M.V.)., de Waard V; Department of Medical Biochemistry, Amsterdam University Medical Center, Amsterdam Cardiovascular Sciences, the Netherlands (V.d.W.)., Maugeri A; Department of Human Genetics, Amsterdam University Medical Center, Vrije Universiteit Amsterdam, the Netherlands (J.B., S.I.M.A., M.J.H.B., S.N.v.d.C., F.L.K., E.O., A.M., A.C.H.)., Brüggenwirth HT; Department of Clinical Genetics, Cardiovascular Institute, Erasmus Medical Center, University Medical Center, Rotterdam, the Netherlands (S.D., L.M.v.d.B., R.L., D.M.-K., H.T.B., I.M.B.H.v.d.L.)., van de Laar IMBH; Department of Clinical Genetics, Cardiovascular Institute, Erasmus Medical Center, University Medical Center, Rotterdam, the Netherlands (S.D., L.M.v.d.B., R.L., D.M.-K., H.T.B., I.M.B.H.v.d.L.).; European Reference Network for Rare Multisystemic Vascular Disease, Medium Sized Arteries Working Group, Rotterdam, the Netherlands (I.M.B.H.v.d.L.)., Houweling AC; Department of Human Genetics, Amsterdam University Medical Center, Vrije Universiteit Amsterdam, the Netherlands (J.B., S.I.M.A., M.J.H.B., S.N.v.d.C., F.L.K., E.O., A.M., A.C.H.).; Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, the Netherlands (J.B., S.I.M.A., M.J.H.B., S.N.v.d.C., F.L.K., E.O., A.C.H.).

    المصدر: Circulation. Genomic and precision medicine [Circ Genom Precis Med] 2024 Jun; Vol. 17 (3), pp. e003978. Date of Electronic Publication: 2024 Apr 16.

    نوع المنشور: Journal Article; Multicenter Study

    بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 101714113 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2574-8300 (Electronic) Linking ISSN: 25748300 NLM ISO Abbreviation: Circ Genom Precis Med Subsets: MEDLINE

  2. 2
    دورية أكاديمية

    المؤلفون: Buso G; Department of Clinical and Experimental Sciences, Division of Internal Medicine, ASST Spedali Civili Brescia, University of Brescia, Brescia, Lombardy, Italy.; University of Lausanne, Lausanne, Switzerland., Paini A; Department of Clinical and Experimental Sciences, Division of Internal Medicine, ASST Spedali Civili Brescia, University of Brescia, Brescia, Lombardy, Italy., Agabiti-Rosei C; Department of Clinical and Experimental Sciences, Division of Internal Medicine, ASST Spedali Civili Brescia, University of Brescia, Brescia, Lombardy, Italy., De Ciuceis C; Department of Clinical and Experimental Sciences, Division of Internal Medicine, ASST Spedali Civili Brescia, University of Brescia, Brescia, Lombardy, Italy., Bertacchini F; Department of Clinical and Experimental Sciences, Division of Internal Medicine, ASST Spedali Civili Brescia, University of Brescia, Brescia, Lombardy, Italy., Stassaldi D; Department of Clinical and Experimental Sciences, Division of Internal Medicine, ASST Spedali Civili Brescia, University of Brescia, Brescia, Lombardy, Italy., Salvetti M; Department of Clinical and Experimental Sciences, Division of Internal Medicine, ASST Spedali Civili Brescia, University of Brescia, Brescia, Lombardy, Italy., Ritelli M; Department of Molecular and Translational Medicine, Division of Biology and Genetics, University of Brescia, Brescia, Lombardy, Italy., Venturini M; Department of Clinical and Experimental Sciences, Division of Dermatology, ASST Spedali Civili Brescia, University of Brescia, Brescia, Lombardy, Italy., Colombi M; Department of Molecular and Translational Medicine, Division of Biology and Genetics, University of Brescia, Brescia, Lombardy, Italy., Muiesan ML; Department of Clinical and Experimental Sciences, Division of Internal Medicine, ASST Spedali Civili Brescia, University of Brescia, Brescia, Lombardy, Italy.

    المصدر: Vascular medicine (London, England) [Vasc Med] 2024 Jun; Vol. 29 (3), pp. 265-273. Date of Electronic Publication: 2023 Dec 16.

    نوع المنشور: Journal Article

    بيانات الدورية: Publisher: SAGE Publications Country of Publication: England NLM ID: 9610930 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1477-0377 (Electronic) Linking ISSN: 1358863X NLM ISO Abbreviation: Vasc Med Subsets: MEDLINE

  3. 3
    تقرير

    عنوان ترانسليتريتد: Perforación espontánea de sigma en paciente con Ehlers-Danlos vascular.

    المؤلفون: González Bocanegra M; Hospital Universitario de Getafe, Getafe, Madrid, España; Universidad Europea de Madrid, Villaviciosa de Odón, Madrid, España., Manuel-Vázquez A; Hospital Universitario de Getafe, Getafe, Madrid, España; Universidad Europea de Madrid, Villaviciosa de Odón, Madrid, España. Electronic address: alba_manuel_vazquez@hotmail.com., Ramos Rodríguez JL; Hospital Universitario de Getafe, Getafe, Madrid, España; Universidad Europea de Madrid, Villaviciosa de Odón, Madrid, España.

    المصدر: Medicina clinica [Med Clin (Barc)] 2024 Jul 12; Vol. 163 (1), pp. 48-49. Date of Electronic Publication: 2024 Mar 12.

    نوع المنشور: Case Reports; Letter

    بيانات الدورية: Publisher: Elsevier España Country of Publication: Spain NLM ID: 0376377 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1578-8989 (Electronic) Linking ISSN: 00257753 NLM ISO Abbreviation: Med Clin (Barc) Subsets: MEDLINE

  4. 4
    دورية أكاديمية

    المؤلفون: Jeffery T; Department of Education and Lifelong Learning, Bishop Grosseteste University, Lincoln, UK. Electronic address: tracy.jeffery@bishopg.ac.uk., Postavaru GI; Department of Applied Social Sciences, Bishop Grosseteste University, Lincoln, UK., Matei R; Department of Organizational Psychology, Birkbeck, University of London, London, UK., Meizel K; College of Musical Arts, Bowling Green State University, Ohio, USA.

    المصدر: Journal of voice : official journal of the Voice Foundation [J Voice] 2024 Jul; Vol. 38 (4), pp. 966.e19-966.e29. Date of Electronic Publication: 2021 Dec 29.

    نوع المنشور: Journal Article

    بيانات الدورية: Publisher: Mosby Country of Publication: United States NLM ID: 8712262 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-4588 (Electronic) Linking ISSN: 08921997 NLM ISO Abbreviation: J Voice Subsets: MEDLINE

    SCR Disease Name: Joint laxity, familial

  5. 5
    دورية أكاديمية

    المؤلفون: Yeung F; Department of Pediatrics, University of Toronto, Canada; Division of Pediatric Medicine, Hospital for Sick Children, Canada. Electronic address: frances.yeung@sickkids.ca., Smith J; Department of Pediatrics, University of Toronto, Canada; Division of Pediatric Medicine, Hospital for Sick Children, Canada., Mendoza-Londono R; Department of Pediatrics, University of Toronto, Canada; Division of Clinical and Metabolic Genetics, Hospital for Sick Children, Canada., O'Connor C; Division of Pediatric Medicine, Hospital for Sick Children, Canada., Howard A; Division of Orthopaedic Surgery, Hospital for Sick Children, Canada., Sorbara J; Department of Pediatrics, University of Toronto, Canada; Division of Endocrinology, Hospital for Sick Children, Canada., Schwartz S; Department of Pediatrics, University of Toronto, Canada; Division of Pediatric Medicine, Hospital for Sick Children, Canada.

    المصدر: Child abuse & neglect [Child Abuse Negl] 2024 Jul; Vol. 153, pp. 106828. Date of Electronic Publication: 2024 May 14.

    نوع المنشور: Journal Article

    بيانات الدورية: Publisher: Elsevier Science Inc Country of Publication: England NLM ID: 7801702 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-7757 (Electronic) Linking ISSN: 01452134 NLM ISO Abbreviation: Child Abuse Negl Subsets: MEDLINE

  6. 6
    دورية أكاديمية

    المؤلفون: Xu K; Department of Orthopaedic Surgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, No. 1 Shuaifuyuan, Beijing, 100730, China.; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, 100730, China.; Key Laboratory of Big Data for Spinal Deformities, Chinese Academy of Medical Sciences, Beijing, 100730, China.; State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, 100730, China., Li G; Department of Orthopaedic Surgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, No. 1 Shuaifuyuan, Beijing, 100730, China.; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, 100730, China.; Key Laboratory of Big Data for Spinal Deformities, Chinese Academy of Medical Sciences, Beijing, 100730, China.; State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, 100730, China., Wu Z; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, 100730, China.; Key Laboratory of Big Data for Spinal Deformities, Chinese Academy of Medical Sciences, Beijing, 100730, China.; Medical Research Center, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, 100730, China.; State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, 100730, China., Zhang TJ; Department of Orthopaedic Surgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, No. 1 Shuaifuyuan, Beijing, 100730, China. jgzhang_pumch@yahoo.com.; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, 100730, China. jgzhang_pumch@yahoo.com.; Key Laboratory of Big Data for Spinal Deformities, Chinese Academy of Medical Sciences, Beijing, 100730, China. jgzhang_pumch@yahoo.com.; State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, 100730, China. jgzhang_pumch@yahoo.com., Wu N; Department of Orthopaedic Surgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, No. 1 Shuaifuyuan, Beijing, 100730, China. dr.wunan@pumch.cn.; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, 100730, China. dr.wunan@pumch.cn.; Key Laboratory of Big Data for Spinal Deformities, Chinese Academy of Medical Sciences, Beijing, 100730, China. dr.wunan@pumch.cn.; State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, 100730, China. dr.wunan@pumch.cn.

    المصدر: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 May 13; Vol. 19 (1), pp. 194. Date of Electronic Publication: 2024 May 13.

    نوع المنشور: Journal Article

    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

  7. 7
    دورية أكاديمية

    المؤلفون: Cottone C; Jacobs School Medicine and Biomedical Sciences, University at Buffalo, Buffalo, NY, USA. Electronic address: chloecot@buffalo.edu., Nanu D; Department of Otolaryngology - Head and Neck Surgery, Medical University of South Carolina, Charleston, SC, USA; Elson S. Floyd College of Medicine at Washington State University, Spokane, WA, USA. Electronic address: douglas.nanu@wsu.edu., Gawel EM; Jacobs School Medicine and Biomedical Sciences, University at Buffalo, Buffalo, NY, USA. Electronic address: eringawe@buffalo.edu., Corbin AF; Jacobs School Medicine and Biomedical Sciences, University at Buffalo, Buffalo, NY, USA. Electronic address: acorbin@buffalo.edu., Clausen S; Department of Otolaryngology, Jacobs School Medicine and Biomedical Sciences, University at Buffalo, Buffalo, NY, USA. Electronic address: seanclau@buffalo.edu., Carr M; Department of Otolaryngology, Jacobs School Medicine and Biomedical Sciences, University at Buffalo, Buffalo, NY, USA. Electronic address: mcarr@buffalo.edu.

    المصدر: International journal of pediatric otorhinolaryngology [Int J Pediatr Otorhinolaryngol] 2024 May; Vol. 180, pp. 111959. Date of Electronic Publication: 2024 Apr 22.

    نوع المنشور: Journal Article

    بيانات الدورية: Publisher: Elsevier Scientific Publishers Country of Publication: Ireland NLM ID: 8003603 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1872-8464 (Electronic) Linking ISSN: 01655876 NLM ISO Abbreviation: Int J Pediatr Otorhinolaryngol Subsets: MEDLINE

  8. 8
    دورية أكاديمية

    المؤلفون: Shichman I; Department of Orthopaedic Surgery, NYU Langone Health, New York, NY, USA., Rajahraman V; Department of Orthopaedic Surgery, NYU Langone Health, New York, NY, USA., Anil U; Department of Orthopaedic Surgery, NYU Langone Health, New York, NY, USA., Lin CC; Department of Orthopaedic Surgery, NYU Langone Health, New York, NY, USA., Rozell JC; Department of Orthopaedic Surgery, NYU Langone Health, New York, NY, USA., Schwarzkopf R; Department of Orthopaedic Surgery, NYU Langone Health, New York, NY, USA.

    المصدر: Hip international : the journal of clinical and experimental research on hip pathology and therapy [Hip Int] 2024 Jul; Vol. 34 (4), pp. 503-509. Date of Electronic Publication: 2024 Apr 15.

    نوع المنشور: Journal Article

    بيانات الدورية: Publisher: SAGE Publishing Country of Publication: United States NLM ID: 9200413 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1724-6067 (Electronic) Linking ISSN: 11207000 NLM ISO Abbreviation: Hip Int Subsets: MEDLINE

  9. 9
    دورية أكاديمية

    المؤلفون: Ploeg AN; From the Tulane University School of Medicine, New Orleans, Louisiana (ANP); Fascia Institute and Treatment Center, New Orleans, Louisiana (JC); Department of Physical Medicine and Rehabilitation, Westchester Medical Center, Hawthorne, New York (AL); and Department of Physical Medicine and Rehabilitation, New York Medical College, Valhalla, New York (AL)., Courseault J, Lekshminarayanan A

    المصدر: American journal of physical medicine & rehabilitation [Am J Phys Med Rehabil] 2024 Jul 01; Vol. 103 (7), pp. e82-e85. Date of Electronic Publication: 2024 Jan 08.

    نوع المنشور: Journal Article; Case Reports

    بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 8803677 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-7385 (Electronic) Linking ISSN: 08949115 NLM ISO Abbreviation: Am J Phys Med Rehabil Subsets: MEDLINE

  10. 10
    دورية أكاديمية

    المؤلفون: Umapathy N; Pediatrics, Saveetha Institute of Medical and Technical Sciences (Deemed to be University), Chennai, Tamil Nadu, India navinu02@gmail.com., Thirugnana Sambanda Moorthy B; Pediatrics, Saveetha Institute of Medical and Technical Sciences (Deemed to be University), Chennai, Tamil Nadu, India., Azhagar Nambi Santhi V; Pediatrics, Saveetha medical college, SIMATS University, Chennai, Tamil Nadu, India., Nair LDV; Pediatrics, Saveetha medical college, SIMATS University, Chennai, Tamil Nadu, India.

    المصدر: BMJ case reports [BMJ Case Rep] 2024 Jun 04; Vol. 17 (6). Date of Electronic Publication: 2024 Jun 04.

    نوع المنشور: Case Reports; Journal Article

    بيانات الدورية: Publisher: BMJ Pub. Group Country of Publication: England NLM ID: 101526291 Publication Model: Electronic Cited Medium: Internet ISSN: 1757-790X (Electronic) Linking ISSN: 1757790X NLM ISO Abbreviation: BMJ Case Rep Subsets: MEDLINE

    SCR Disease Name: Cerebellar Hypoplasia