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Academic Journal

Takotsubo Cardiomyopathy Presenting with QT Prolongation and Torsade de Pointes in a Patient with Coronavirus Disease 2019.

  • Authors : Kawanaka H; Department of Cardiovascular Medicine, Shizuoka Medical Center.; Ogano M

Subjects: Torsades de Pointes*/Torsades de Pointes*/Torsades de Pointes*/diagnosis ; Torsades de Pointes*/Torsades de Pointes*/Torsades de Pointes*/etiology ; Torsades de Pointes*/Torsades de Pointes*/Torsades de Pointes*/therapy

  • Source: Journal of Nippon Medical School = Nippon Ika Daigaku zasshi [J Nippon Med Sch] 2024 Mar 09; Vol. 91 (1), pp. 124-128. Date of Electronic Publication: 2023 Feb 21.Publisher: Medical Association of Nippon Medical School Country of Publication: Japan NLM ID: 100935589 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

Neurobehavioral and developmental profiles: genotype-phenotype correlations in individuals with Cornelia de Lange syndrome.

  • Authors : Ng R; Department of Neuropsychology, Kennedy Krieger Institute, 1750 E. Fairmount Ave, Baltimore, MD, 21231, USA. .; Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD, USA. .

Subjects: Cell Cycle Proteins*/Cell Cycle Proteins*/Cell Cycle Proteins*/genetics ; De Lange Syndrome*/De Lange Syndrome*/De Lange Syndrome*/genetics; Child

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Mar 10; Vol. 19 (1), pp. 111. Date of Electronic Publication: 2024 Mar 10.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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Academic Journal

Comprehensive review and expanding the genetic landscape of Cornelia-de-Lange spectrum: insights from novel mutations and skin biopsy in exome-negative cases.

  • Authors : Tehrani Fateh S; Center for Comprehensive Genetic Services, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; School of Medicine, Tehran University of Medical Sciences (TUMS), Tehran, Iran.

Subjects: Cell Cycle Proteins*/Cell Cycle Proteins*/Cell Cycle Proteins*/genetics ; De Lange Syndrome*/De Lange Syndrome*/De Lange Syndrome*/genetics ; De Lange Syndrome*/De Lange Syndrome*/De Lange Syndrome*/diagnosis

  • Source: BMC medical genomics [BMC Med Genomics] 2024 Jan 12; Vol. 17 (1), pp. 20. Date of Electronic Publication: 2024 Jan 12.Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794

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Academic Journal

Smartphone usage behaviors and their association with De Quervain's Tenosynovitis (DQT)among college students: a cross-sectional study in Guangxi, China.

  • Authors : Nie X; Department of Spine Surgery, The second hospital of Jilin University, Changchun, China.; Guangxi Diabetic Foot Salvage Engineering Research Center, The First Affiliated Hospital of Guangxi Medical University, Nanning, China.

Subjects: Tenosynovitis*/Tenosynovitis*/Tenosynovitis*/complications ; De Quervain Disease*/De Quervain Disease*/De Quervain Disease*/complications ; De Quervain Disease*/De Quervain Disease*/De Quervain Disease*/diagnosis

  • Source: BMC public health [BMC Public Health] 2023 Nov 16; Vol. 23 (1), pp. 2257. Date of Electronic Publication: 2023 Nov 16.Publisher: BioMed Central Country of Publication: England NLM ID: 100968562 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2458

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Academic Journal

Mutation profiling in South African patients with Cornelia de Lange syndrome phenotype.

  • Authors : Seymour H; Division of Human Genetics, National Health Laboratory Service, and School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.; Feben C

Subjects: Cell Cycle Proteins*/Cell Cycle Proteins*/Cell Cycle Proteins*/genetics ; De Lange Syndrome*/De Lange Syndrome*/De Lange Syndrome*/genetics ; De Lange Syndrome*/De Lange Syndrome*/De Lange Syndrome*/pathology

  • Source: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Jan; Vol. 12 (1), pp. e2342.Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

Clinical study and genetic analysis of Cornelia de Lange syndrome caused by a novel MAU2 gene variant in a Chinese boy.

  • Authors : Peng Y; Department of Nephrology, Anhui Provincial Children's Hospital, Hefei, China.; Zhu Y

Subjects: Cell Cycle Proteins*/Cell Cycle Proteins*/Cell Cycle Proteins*/genetics ; De Lange Syndrome*/De Lange Syndrome*/De Lange Syndrome*/genetics; Male

  • Source: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Jan; Vol. 12 (1), pp. e2318. Date of Electronic Publication: 2023 Nov 14.Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Life-Threatening Cardiac Arrhythmias in a Case of Undetected Myxedema Coma: Importance of Early Detection and Medication Adherence.

  • Authors : Jones BN; Internal Medicine Residency Program, Camden Clark Medical Center, Parkersburg, WV, USA.; Kumar B

Subjects: Myxedema*/Myxedema*/Myxedema*/diagnosis ; Myxedema*/Myxedema*/Myxedema*/drug therapy ; Hypothyroidism*/Hypothyroidism*/Hypothyroidism*/complications

  • Source: The American journal of case reports [Am J Case Rep] 2023 Nov 05; Vol. 24, pp. e941414. Date of Electronic Publication: 2023 Nov 05.Publisher: International Scientific Information, Inc Country of Publication: United States NLM ID: 101489566 Publication Model: Electronic Cited Medium:

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Academic Journal

Unblinding de Quervain: A systematic review of ultrasound-guided injection of corticosteroids for treatment of stenosing tenosynovitis of the 1st extensor compartment.

  • Authors : He KS; Plastic and Reconstructive Surgery, Centre hospitalier de l'Université de Montréal (CHUM), Montreal, Quebec, Canada.; He KS

Subjects: De Quervain Disease*/De Quervain Disease*/De Quervain Disease*/diagnostic imaging ; De Quervain Disease*/De Quervain Disease*/De Quervain Disease*/drug therapy ; Tendon Entrapment*

  • Source: Journal of medical radiation sciences [J Med Radiat Sci] 2023 Sep; Vol. 70 (3), pp. 319-326. Date of Electronic Publication: 2023 Apr 20.Publisher: Wiley Publishing Asia Pty Ltd Country of Publication: United States NLM ID: 101620352 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

Nipbl Haploinsufficiency Leads to Delayed Outflow Tract Septation and Aortic Valve Thickening.

  • Authors : Boulet F; Institut de Génomique Fonctionnelle, University of Montpellier, Centre National de la Recherche Scientifique, Institut National de la Santé et de la Recherche Médicale, 34094 Montpellier, France.; Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London E1 2AT, UK.

Subjects: Cell Cycle Proteins*/Cell Cycle Proteins*/Cell Cycle Proteins*/genetics ; De Lange Syndrome*/De Lange Syndrome*/De Lange Syndrome*/genetics ; Heart Defects, Congenital*/Heart Defects, Congenital*/Heart Defects, Congenital*/genetics

  • Source: International journal of molecular sciences [Int J Mol Sci] 2023 Oct 25; Vol. 24 (21). Date of Electronic Publication: 2023 Oct 25.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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Academic Journal

Nasal polyposis in pediatric patients with Cornelia de Lange syndrome: endoscopic diagnosis, treatment and follow up in two case reports.

  • Authors : Onesimo R; Rare Diseases Unit, Fondazione Policlinico Universitario Agostino Gemelli-IRCCS, Largo Gemelli 8, 00168, Rome, Italy. .; Pediatric Unit, Fondazione Policlinico Universitario Agostino Gemelli-IRCCS, Rome, Italy. .

Subjects: De Lange Syndrome*/De Lange Syndrome*/De Lange Syndrome*/complications ; De Lange Syndrome*/De Lange Syndrome*/De Lange Syndrome*/diagnosis ; De Lange Syndrome*/De Lange Syndrome*/De Lange Syndrome*/therapy

  • Source: Italian journal of pediatrics [Ital J Pediatr] 2023 Jul 16; Vol. 49 (1), pp. 85. Date of Electronic Publication: 2023 Jul 16.Publisher: BioMed Central Country of Publication: England NLM ID: 101510759 Publication Model: Electronic Cited Medium: Internet ISSN: 1824-7288

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  • 1-10 of  12,223,184 results for ""DE""