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المؤلفون: Duncan JG, Bharadwaj KG, Fong JL, Mitra R, Sambandam N, Courtois MR, Lavine KJ, Goldberg IJ, Kelly DP, Duncan, Jennifer G, Bharadwaj, Kalyani G, Fong, Juliet L, Mitra, Riddhi, Sambandam, Nandakumar, Courtois, Michael R, Lavine, Kory J, Goldberg, Ira J, Kelly, Daniel P

المصدر: Circulation; 1/26/2010, Vol. 121 Issue 3, p426-435, 10p

المؤلفون: Duncan JG, Fong JL, Medeiros DM, Finck BN, Kelly DP, Duncan, Jennifer G, Fong, Juliet L, Medeiros, Denis M, Finck, Brian N, Kelly, Daniel P

المصدر: Circulation; 2/20/2007, Vol. 115 Issue 7, p909-917, 9p

المؤلفون: Song W; Department of Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA 90095., Yang Y; Department of Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA 90095., Heizer P; Department of Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA 90095., Tu Y; Department of Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA 90095., Weston TA; Department of Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA 90095., Kim JR; Department of Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA 90095., Munguia P; Department of Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA 90095., Jung H; Department of Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA 90095., Fong JL; Department of Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA 90095., Tran C; Department of Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA 90095., Ploug M; Finsen Laboratory, Rigshospitalet DK-2200 Copenhagen N, Denmark.; Biotech Research and Innovation Centre, University of Copenhagen DK-220 Copenhagen N, Denmark., Beigneux AP; Department of Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA 90095., Young SG; Department of Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA 90095.; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095., Fong LG; Department of Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA 90095.

المصدر: Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2023 Feb 21; Vol. 120 (8), pp. e2219833120. Date of Electronic Publication: 2023 Feb 14.

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

بيانات الدورية: Publisher: National Academy of Sciences Country of Publication: United States NLM ID: 7505876 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1091-6490 (Electronic) Linking ISSN: 00278424 NLM ISO Abbreviation: Proc Natl Acad Sci U S A Subsets: MEDLINE

مواضيع طبية MeSH: Adipose Tissue, Brown*/metabolism , Receptors, Lipoprotein*/metabolism, Animals ; Mice ; Adipose Tissue/metabolism ; Antibodies/metabolism ; Lipoprotein Lipase/metabolism ; Temperature ; Triglycerides/metabolism

المؤلفون: Velmans C; Institute of Human Genetics, University Hospital Cologne, Cologne, Nordrhein-Westfalen, Germany., O'Donnell-Luria AH; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.; Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, USA., Argilli E; Brain Development Research Program, Department of Neurology, University of California San Francisco Division of Hospital Medicine, San Francisco, California, USA., Tran Mau-Them F; UFR Des Sciences de Santé, INSERM UMR1231 GAD Génétique des Anomalies du Développement, FHU-TRANSLAD, Université de Bourgogne, Dijon, Bourgogne, France.; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Vitobello A; UFR Des Sciences de Santé, INSERM UMR1231 GAD Génétique des Anomalies du Développement, FHU-TRANSLAD, Université de Bourgogne, Dijon, Bourgogne, France.; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Chan MC; Department of Paediatrics and Adolescent Medicine, University of Hong Kong, Hong Kong, Hong Kong., Fung JL; Department of Paediatrics and Adolescent Medicine, University of Hong Kong, Hong Kong, Hong Kong., Rech M; Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Abicht A; Medical Genetics Center (MGZ), Munich, Germany., Aubert Mucca M; Department of Medical Genetics, University Hospital Centre Toulouse, Toulouse, Midi-Pyrénées, France., Carmichael J; Department of Medical Genetics and Metabolism, Valley Children's Hospital, Madera, California, USA., Chassaing N; Department of Medical Genetics, University Hospital Centre Toulouse, Toulouse, Midi-Pyrénées, France., Clark R; Pediatrics Specialty Clinics, Loma Linda University Medical Center, Loma Linda, California, USA., Coubes C; Department of Medical Genetics, University Hospital Center Montpellier, Montpellier, Languedoc-Roussillon, France., Denommé-Pichon AS; UFR Des Sciences de Santé, INSERM UMR1231 GAD Génétique des Anomalies du Développement, FHU-TRANSLAD, Université de Bourgogne, Dijon, Bourgogne, France.; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., de Dios JK; Department of Medical Genetics, Dayton Children's Hospital, Dayton, Ohio, USA., England E; Center for Mendelian Genomics and Medical and Population Genetics Program, Broad Institute, Cambridge, Massachusetts, USA., Funalot B; Department of Clinical Genetics, Hopital Henri Mondor, Creteil, Île-de-France, France., Gerard M; Service de Génétique, Centre Hospitalier Universitaire de Caen, Caen, Basse-Normandie, France., Joseph M; Department of Medical Genetics and Metabolism, Valley Children's Hospital, Madera, California, USA., Kennedy C; Department of Medical Genetics and Metabolism, Valley Children's Hospital, Madera, California, USA., Kumps C; Division of Genetic Medicine, Lausanne University Hospital, Lausanne, VD, Switzerland., Willems M; Medical Genetic Department for Rare Diseases and Personalized Medicine, Reference Center AD SOOR, AnDDI-RARE, Groupe DI, Inserm U1298, Montpellier University, Centre Hospitalier Universitaire de Montpellier, Montpellier, France., van de Laar IMBH; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Aarts-Tesselaar C; Department of Pediatrics, Amphia Hospital, Breda, North Brabant, Netherlands., van Slegtenhorst M; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Lehalle D; Department of Clinical Genetics, Hopital Henri Mondor, Creteil, Île-de-France, France., Leppig K; Genetic Services, Kaiser Permanente Washington, Seattle, Washington, USA., Lessmeier L; Institute of Human Genetics, University Hospital Cologne, Cologne, Nordrhein-Westfalen, Germany., Pais LS; Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, USA., Paterson H; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA., Ramanathan S; Pediatrics Specialty Clinics, Loma Linda University Medical Center, Loma Linda, California, USA., Rodan LH; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA., Superti-Furga A; Division of Genetic Medicine, Lausanne University Hospital, Lausanne, VD, Switzerland., Chung BHY; Department of Paediatrics and Adolescent Medicine, University of Hong Kong, Hong Kong, Hong Kong., Sherr E; Brain Development Research Program, Department of Neurology, University of California San Francisco Division of Hospital Medicine, San Francisco, California, USA., Netzer C; Institute of Human Genetics, University Hospital Cologne, Cologne, Nordrhein-Westfalen, Germany., Schaaf CP; Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Institute of Human Genetics, Heidelberg University, Heidelberg, Baden-Württemberg, Germany.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, Texas, USA., Erger F; Institute of Human Genetics, University Hospital Cologne, Cologne, Nordrhein-Westfalen, Germany florian.erger@uk-koeln.de.

المصدر: Journal of medical genetics [J Med Genet] 2022 Jul; Vol. 59 (7), pp. 697-705. Date of Electronic Publication: 2021 Jul 28.

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

بيانات الدورية: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Autism Spectrum Disorder*/genetics , Intellectual Disability*/diagnosis , Intellectual Disability*/epidemiology , Intellectual Disability*/genetics , Megalencephaly* , Neurodevelopmental Disorders*, Child ; Humans ; Seizures/epidemiology ; Seizures/genetics ; Syndrome ; Exome Sequencing

المؤلفون: Ho S; Clinical Genetic Service, Department of Health, Hong Kong, China., Tsang MH; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China., Fung JL; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China., Huang H; Department of Pediatrics, The University of Hong Kong-Shenzhen Hospital, Shenzhen, China., Chow CB; Department of Pediatrics, The University of Hong Kong-Shenzhen Hospital, Shenzhen, China., Cheng SS; Clinical Genetic Service, Department of Health, Hong Kong, China., Luk HM; Clinical Genetic Service, Department of Health, Hong Kong, China., Chung BH; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China., Lo IF; Clinical Genetic Service, Department of Health, Hong Kong, China.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2022 Jan; Vol. 188 (1), pp. 130-137. Date of Electronic Publication: 2021 Sep 24.

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: Microcephaly*/genetics , Neurodevelopmental Disorders*/diagnosis , Neurodevelopmental Disorders*/genetics, China/epidemiology ; Familial Exudative Vitreoretinopathies ; Humans ; Phenotype ; beta Catenin

المؤلفون: Kim PH; Department of Medicine.; Department of Bioengineering., Chen NY; Department of Medicine.; Department of Integrative Biology and Physiology, and., Heizer PJ; Department of Medicine., Tu Y; Department of Medicine., Weston TA; Department of Medicine., Fong JL; Department of Medicine., Gill NK; Department of Integrative Biology and Physiology, and., Rowat AC; Department of Bioengineering.; Department of Integrative Biology and Physiology, and., Young SG; Department of Medicine.; Department of Human Genetics, UCLA, Los Angeles, California, USA., Fong LG; Department of Medicine.

المصدر: JCI insight [JCI Insight] 2021 Aug 23; Vol. 6 (16). Date of Electronic Publication: 2021 Aug 23.

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

بيانات الدورية: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 101676073 Publication Model: Electronic Cited Medium: Internet ISSN: 2379-3708 (Electronic) Linking ISSN: 23793708 NLM ISO Abbreviation: JCI Insight Subsets: MEDLINE

مواضيع طبية MeSH: Aorta/*pathology , Lamin Type A/*genetics , Muscle, Smooth, Vascular/*pathology , Nuclear Envelope/*pathology , Progeria/*pathology, Animals ; Aorta/cytology ; Disease Models, Animal ; Humans ; Lamin Type A/metabolism ; Lamin Type B/genetics ; Lamin Type B/metabolism ; Mice ; Mice, Transgenic ; Muscle, Smooth, Vascular/cytology ; Mutation ; Myocytes, Smooth Muscle/cytology ; Myocytes, Smooth Muscle/pathology ; Progeria/genetics

المؤلفون: Seto MT; Department of Obstetrics and Gynecology, Queen Mary Hospital, The University of Hong Kong, Pok Fu Lam, Hong Kong., Bertoli-Avella AM; CENTOGENE GmbH, Rostock, Germany., Cheung KW; Department of Obstetrics and Gynecology, Queen Mary Hospital, The University of Hong Kong, Pok Fu Lam, Hong Kong., Chan KY; Department of Obstetrics and Gynecology, Queen Mary Hospital, The University of Hong Kong, Pok Fu Lam, Hong Kong.; Prenatal Diagnostic Laboratory, Tsan Yuk Hospital, Sai Ying Pun, Hong Kong., Yeung KS; Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Pok Fu Lam, Hong Kong., Fung JL; Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Pok Fu Lam, Hong Kong., Beetz C; CENTOGENE GmbH, Rostock, Germany., Bauer P; CENTOGENE GmbH, Rostock, Germany., Luk HM; Department of Health, Clinical Genetic Service, Kowloon Bay, Hong Kong., Lo IF; Department of Health, Clinical Genetic Service, Kowloon Bay, Hong Kong., Lee CP; Department of Obstetrics and Gynecology, Queen Mary Hospital, The University of Hong Kong, Pok Fu Lam, Hong Kong., Chung BH; Department of Obstetrics and Gynecology, Queen Mary Hospital, The University of Hong Kong, Pok Fu Lam, Hong Kong.; Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Pok Fu Lam, Hong Kong., Kan AS; Department of Obstetrics and Gynecology, Queen Mary Hospital, The University of Hong Kong, Pok Fu Lam, Hong Kong.; Prenatal Diagnostic Laboratory, Tsan Yuk Hospital, Sai Ying Pun, Hong Kong.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2021 Feb; Vol. 185 (2), pp. 384-389. Date of Electronic Publication: 2020 Nov 09.

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: Abnormalities, Multiple/*genetics , Developmental Disabilities/*genetics , Intellectual Disability/*genetics , Vesicular Transport Proteins/*genetics, Abnormalities, Multiple/diagnosis ; Abnormalities, Multiple/pathology ; Child ; Developmental Disabilities/diagnosis ; Developmental Disabilities/pathology ; Female ; Heterozygote ; Humans ; Intellectual Disability/diagnosis ; Intellectual Disability/pathology ; Male ; Phenotype ; Prenatal Diagnosis/methods ; Exome Sequencing

المؤلفون: Kwong AK; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Pok Fu Lam, Hong Kong SAR, China., Tsang MH; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Pok Fu Lam, Hong Kong SAR, China., Fung JL; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Pok Fu Lam, Hong Kong SAR, China., Mak CC; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Pok Fu Lam, Hong Kong SAR, China., Chan KL; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Pok Fu Lam, Hong Kong SAR, China., Rodenburg RJT; Radboud Centre for Mitochondrial Medicine, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands., Lek M; Department of Genetics, Yale School of Medicine, New Haven, USA., Huang S; Department of Genetics, Yale School of Medicine, New Haven, USA.; Affiliated Hospital of Nantong University, Nantong, China.; The First Affiliated Hospital, Nanjing Medical University, Nanjing, China., Pajusalu S; Department of Genetics, Yale School of Medicine, New Haven, USA.; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia., Yau MM; Department of Paediatrics and Adolescent Medicine, Tseung Kwan O Hospital, Tseung Kwan O, Hong Kong SAR, China., Tsoi C; Department of Pediatrics, Centro Hospitalar Conde de Sao Januário Hospital, Macau SAR, China., Fung S; Department of Paediatrics and Adolescent Medicine, Kwong Wah Hospital, Yau Ma Tei, Hong Kong SAR, China., Liu KT; Department of Paediatrics and Adolescent Medicine, Pamela Youde Nethersole Eastern Hospital, Chai Wan, Hong Kong SAR, China., Ma CK; Department of Paediatrics and Adolescent Medicine, United Christian Hospital, Kwun Tong, Hong Kong SAR, China., Wong S; Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Ngau Tau Kok, Hong Kong SAR, China., Yau EK; Department of Paediatrics and Adolescent Medicine, Princess Margaret Hospital, Kwai Chung, Hong Kong SAR, China., Tai SM; Department of Paediatrics and Adolescent Medicine, Pamela Youde Nethersole Eastern Hospital, Chai Wan, Hong Kong SAR, China., Fung EL; Department of Paediatrics, Prince of Wales Hospital, Sha Tin, Hong Kong SAR, China., Wu NS; Department of Paediatrics, Queen Elizabeth Hospital, Yau Ma Tei, Hong Kong SAR, China., Tsung LY; Department of Paediatrics and Adolescent Medicine, Pamela Youde Nethersole Eastern Hospital, Chai Wan, Hong Kong SAR, China., Smeitink J; Radboud Centre for Mitochondrial Medicine, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands., Chung BH; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Pok Fu Lam, Hong Kong SAR, China. bhychung@hku.hk.; Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Ngau Tau Kok, Hong Kong SAR, China. bhychung@hku.hk.; Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Pok Fu Lam, Hong Kong SAR, China. bhychung@hku.hk.; Department of Paediatrics and Adolescent Medicine, The Duchess of Kent Children's Hospital, Pok Fu Lam, Hong Kong SAR, China. bhychung@hku.hk.; Department of Pediatrics, The University of Hong Kong-Shenzhen Hospital, Shenzhen, China. bhychung@hku.hk., Fung CW; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Pok Fu Lam, Hong Kong SAR, China. fcw1209m@hku.hk.; Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Ngau Tau Kok, Hong Kong SAR, China. fcw1209m@hku.hk.

المصدر: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 Jan 15; Vol. 16 (1), pp. 32. Date of Electronic Publication: 2021 Jan 15.

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: Dystonic Disorders*/genetics , Movement Disorders*/genetics, Child ; Exome/genetics ; GTP-Binding Protein alpha Subunits, Gi-Go ; Humans ; Mutation/genetics ; Proteins ; Sodium-Potassium-Exchanging ATPase/genetics ; Spastin ; Exome Sequencing

المؤلفون: Rubin H; Northwestern Memorial Hospital Department of Pharmacy, Chicago, Illinois., Mehta J; Northwestern Memorial Hospital Department of Pharmacy, Chicago, Illinois.; Robert H. Lurie Cancer Center and Northwestern University Feinberg School of Medicine, Chicago, Illinois., Fong JL; Northwestern Memorial Hospital Department of Pharmacy, Chicago, Illinois., Greenberg D; Northwestern Memorial Hospital Department of Pharmacy, Chicago, Illinois., GrusChak S; Northwestern Memorial Hospital Department of Pharmacy, Chicago, Illinois.; Robert H. Lurie Cancer Center and Northwestern University Feinberg School of Medicine, Chicago, Illinois., Trifilio S; Northwestern Memorial Hospital Department of Pharmacy, Chicago, Illinois.; Robert H. Lurie Cancer Center and Northwestern University Feinberg School of Medicine, Chicago, Illinois.

المصدر: Journal of the advanced practitioner in oncology [J Adv Pract Oncol] 2020 Sep-Oct; Vol. 11 (7), pp. 675-682. Date of Electronic Publication: 2020 Sep 01.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Harborside Press Country of Publication: United States NLM ID: 101550346 Publication Model: Print-Electronic Cited Medium: Print ISSN: 2150-0878 (Print) Linking ISSN: 21500878 NLM ISO Abbreviation: J Adv Pract Oncol Subsets: PubMed not MEDLINE