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Burden of congenital and hereditary anomalies in the population of Azad Jammu and Kashmir, Pakistan.

• Authors : Khursheed, Filza; Farid, Rubbiya; Qureshi, Saba Rafique

Subjects: CONGENITAL disorders; HUMAN abnormalities; NEUROLOGICAL disordersPAKISTAN; HIMALAYA Mountains

• Source: Pakistan Journal of Medical Sciences; Dec2024, Vol. 40 Issue 11, p2707-2714, 8p

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Nosology of genetic skeletal disorders, Pakistan: an updated review.

• Authors : Mujahid; Umair, Muhammad

Subjects: NOSOLOGY; RESOURCE-limited settings; GERMPLASMPAKISTAN

• Source: Journal of Biochemical & Clinical Genetics; 2023, Vol. 6 Issue 2, p106-118, 13p

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Joint Hypermobility and Musculoskeletal Pain in Paramedical Students and Staff at a Tertiary Care Hospital.

• Authors : Butt, Nauman Ismat

Subjects: JOINT hypermobility; MUSCULOSKELETAL pain; TERTIARY carePAKISTAN; LAHORE (Pakistan)

• Source: Pakistan Armed Forces Medical Journal; 6/30/2023, Vol. 73 Issue 3, p711-711, 1p

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Consanguineous Marriages and Dental Anomalies: A Cross-Sectional Analytical Study.

• Authors : Abbas, Beenish; Abbas, Sana; Malik, Saadia Muneer

Subjects: CONSANGUINITY; REPRODUCTIVE technology; DELIVERY (Obstetrics)PAKISTAN

• Source: International Journal of Dentistry; 4/6/2022, p1-5, 5p

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Exome Sequencing Identifies a Novel FBN1 Variant in a Pakistani Family with Marfan Syndrome That Includes Left Ventricle Diastolic Dysfunction.

• Authors : Farooqi, Nadia¹ (AUTHOR) ; Metherell, Louise A.² (AUTHOR) ; Schrauwen, Isabelle³ (AUTHOR)

Subjects: *MARFAN syndrome; *MYOCARDIUM; *DILATED cardiomyopathyPAKISTAN

• Source: Genes. Dec2021, Vol. 12 Issue 12, p1915-1915. 1p.

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Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis.

• Authors : Biswas, Pooja^1,2 (AUTHOR); Villanueva, Adda L.^3,4 (AUTHOR); Soto-Hermida, Angel¹ (AUTHOR)

Subjects: *WHOLE genome sequencing; *SEQUENCE analysis; *GENETIC variationPAKISTAN; MEXICO

• Source: PLoS Genetics. 10/18/2021, Vol. 17 Issue 10, p1-33. 33p.

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Medication Management Program: Adherence, Disease-related Knowledge, Health-related Quality of Life, and Glycemic Control for Type 2 Diabetes Mellitus.

• Authors : Rashid Nazir, Saeed Ur; Hassali, Mohamed Azmi; Saleem, Fahad

Subjects: GLYCEMIC control; TYPE 2 diabetes; MEDICATION therapy managementPAKISTAN

• Source: Alternative Therapies in Health & Medicine. 2020Supplement2, Vol. 26, p4-10. 7p.

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Mounier Kuhn Syndrome.

• Authors : Shehzad, Rana; ul Manan, Muhammad Atiq; Naveed, Anjum

Subjects: RESPIRATORY infections; ETIOLOGY of diseases; SYMPTOMSPAKISTAN

• Source: Pakistan Journal of Chest Medicine; 2020, Vol. 26 Issue 1, p40-42, 3p

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Identification of Novel Variants in LTBP2 and PXDN Using Whole-Exome Sequencing in Developmental and Congenital Glaucoma.

• Authors : Micheal, Shazia; Siddiqui, Sorath Noorani; Zafar, Saemah Nuzhat

• Source: PLoS ONE. July 13, 2016, Vol. 11 Issue 7.

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Lujan-Fryns Syndrome (LFS): A Unique Combination of Hypernasality, Marfanoid Body Habitus, and Neuropsychiatric Issues, Presenting as Acute-Onset Dysphagia.

• Authors : Khan, Abidullah¹ ; Humayun, Mohammad²; Haider, Iqbal³

Subjects: *PSYCHIATRIC diagnosis; *X-linked genetic disorders; *BODY dysmorphic disorderPAKISTAN

• Source: Clinical Medicine Insights: Case Reports. 2016, Issue 9, p115-118. 4p.

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