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Academic Journal

Preimplantation genetic testing for X-linked chronic granulomatous disease induced by a CYBB gene variant: A case report.

  • Authors : Chen X; Department of Medical Genetics, Center for Prenatal Diagnosis, West China Second University Hospital, Sichuan University, Sichuan, China.; Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Sichuan, China.

Subjects: Granulomatous Disease, Chronic*/Granulomatous Disease, Chronic*/Granulomatous Disease, Chronic*/diagnosis ; Granulomatous Disease, Chronic*/Granulomatous Disease, Chronic*/Granulomatous Disease, Chronic*/genetics ; Preimplantation Diagnosis*/Preimplantation Diagnosis*/Preimplantation Diagnosis*/methods

  • Source: Medicine [Medicine (Baltimore)] 2024 Feb 02; Vol. 103 (5), pp. e37198.Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 2985248R Publication Model: Print Cited Medium: Internet ISSN:

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Report

Delayed diagnosis of vascular vertigo: A case report.

  • Authors : Wang X; Department of Neurology Ward Ⅰ, Cangzhou Clinical College of Integrated Traditional Chinese and Western Medicine of Hebei Medical University, Cangzhou, 061000, China. Electronic address: .; Wang L

Subjects: Delayed Diagnosis*/Delayed Diagnosis*/Delayed Diagnosis*/adverse effects ; Vertigo*/Vertigo*/Vertigo*/diagnosis ; Vertigo*/Vertigo*/Vertigo*/etiology

  • Source: Asian journal of surgery [Asian J Surg] 2024 Feb; Vol. 47 (2), pp. 1033-1034. Date of Electronic Publication: 2023 Nov 30.Publisher: Elsevier Country of Publication: Netherlands NLM ID: 8900600 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Missed diagnosis of longstanding narcolepsy.

  • Authors : Chepke C; From Excel Psychiatric Associates, Huntersville, NC; Atrium Health, Charlotte, NC.

Subjects: Missed Diagnosis* ; Narcolepsy*/Narcolepsy*/Narcolepsy*/diagnosis; Humans

  • Source: Journal of psychiatry & neuroscience : JPN [J Psychiatry Neurosci] 2023 Dec 20; Vol. 48 (6), pp. E472-E473. Date of Electronic Publication: 2023 Dec 20 (Print Publication: Publisher: Canadian Medical Association Country of Publication: Canada NLM ID: 9107859 Publication Model: Electronic-Print Cited Medium: Internet

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Academic Journal

Preimplantation genetic testing and prenatal diagnosis in a family with pseudovaginal perineoscrotal hypospadias: A case report.

  • Authors : Chen J; Shanxi Medicine University, Taiyuan, Shanxi, China.; Children's Hospital of Shanxi Medicine University, Taiyuan, Shanxi, China.

Subjects: Hypospadias*/Hypospadias*/Hypospadias*/diagnosis ; Hypospadias*/Hypospadias*/Hypospadias*/genetics ; Disorders of Sex Development*/Disorders of Sex Development*/Disorders of Sex Development*/diagnosis Pseudovaginal Perineoscrotal Hypospadias

  • Source: Medicine [Medicine (Baltimore)] 2023 Nov 17; Vol. 102 (46), pp. e36171.Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 2985248R Publication Model: Print Cited Medium: Internet ISSN:

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Editorial & Opinion

Impact of diagnostic delay on patient perspectives in pyoderma gangrenosum: an online support group-based survey study.

  • Authors : Taylor LT; Oregon Health and Science University School of Medicine, Portland, OR, USA.; Kody S

Subjects: Delayed Diagnosis* ; Pyoderma Gangrenosum*/Pyoderma Gangrenosum*/Pyoderma Gangrenosum*/diagnosis; Humans

  • Source: Archives of dermatological research [Arch Dermatol Res] 2023 Nov; Vol. 315 (9), pp. 2737-2739. Date of Electronic Publication: 2023 Aug 03.Publisher: Springer Verlag Country of Publication: Germany NLM ID: 8000462 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Missed diagnosis of Fabry disease: should we screen patients with multiple sclerosis?

  • Authors : Rekova P; Department of Neurology and Centre of Clinical Neuroscience, First Faculty of Medicine, Charles University in Prague and General University Hospital, Prague, Czechia.; Kovarova I

Subjects: Fabry Disease*/Fabry Disease*/Fabry Disease*/diagnosis ; Fabry Disease*/Fabry Disease*/Fabry Disease*/epidemiology ; Multiple Sclerosis*/Multiple Sclerosis*/Multiple Sclerosis*/diagnosis

  • Source: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2024 Jan; Vol. 45 (1), pp. 231-239. Publisher: Springer-Verlag Italia Country of Publication: Italy NLM ID: 100959175 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

[Secondary vasculitides].

  • Authors : Rose K; Abteilung für Rheumatologie, Stadtspital Zürich, Birmensdorferstraße 497, 8063, Zürich, Schweiz. .; Iking-Konert C

Subjects: Vasculitis*/Vasculitis*/Vasculitis*/diagnosis ; Skin Diseases, Vascular*/Skin Diseases, Vascular*/Skin Diseases, Vascular*/complications; Humans

  • Source: Innere Medizin (Heidelberg, Germany) [Inn Med (Heidelb)] 2024 Feb; Vol. 65 (2), pp. 129-136. Date of Electronic Publication: 2024 Jan 24.Publisher: Springer Medizin Country of Publication: Germany NLM ID: 9918384885306676 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

How to face the hemifacial spasm: challenges and misconceptions.

  • Authors : Aktan D; Neurology Department, University Hospital of Liège, CHU Liege, Avenue Hippocrate-B35, 4000, Liège, Belgium. .; Depierreux F

Subjects: Hemifacial Spasm*/Hemifacial Spasm*/Hemifacial Spasm*/diagnosis ; Hemifacial Spasm*/Hemifacial Spasm*/Hemifacial Spasm*/etiology ; Hemifacial Spasm*/Hemifacial Spasm*/Hemifacial Spasm*/drug therapy

  • Source: Acta neurologica Belgica [Acta Neurol Belg] 2024 Feb; Vol. 124 (1), pp. 17-23. Date of Electronic Publication: 2023 Jul 27.Publisher: Springer Country of Publication: Italy NLM ID: 0247035 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2240-2993

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Academic Journal

Late Diagnosis of Hirschsprung Disease: Clinical Presentation and Long-Term Functional Outcomes.

Subjects: Hirschsprung Disease*/Hirschsprung Disease*/Hirschsprung Disease*/diagnosis ; Hirschsprung Disease*/Hirschsprung Disease*/Hirschsprung Disease*/surgery ; Hirschsprung Disease*/Hirschsprung Disease*/Hirschsprung Disease*/epidemiology

  • Source: Journal of pediatric surgery [J Pediatr Surg] 2024 Feb; Vol. 59 (2), pp. 220-224. Date of Electronic Publication: 2023 Oct 20.Publisher: Saunders Country of Publication: United States NLM ID: 0052631 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

[Early differential diagnosis and restorative treatment of cerebral palsy].

  • Authors : Nemkova SA; Pirogov Russian National Research Medical University, Moscow, Russia.; Boldyrev VG

Subjects: Cerebral Palsy*/Cerebral Palsy*/Cerebral Palsy*/diagnosis ; Cerebral Palsy*/Cerebral Palsy*/Cerebral Palsy*/therapy ; Autonomic Nervous System Diseases*

  • Source: Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova [Zh Nevrol Psikhiatr Im S S Korsakova] 2024; Vol. 124 (1), pp. 24-37.Publisher: Media Sfera Country of Publication: Russia (Federation) NLM ID: 9712194 Publication Model: Print Cited Medium: Print ISSN: 1997-7298

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  • 1-10 of  5,287,329 results for "%22DIAGNOSIS%22"