Search Results - "Janjua, Jamal"

A novel splice-site mutation in ALS2 establishes the diagnosis of juvenile amyotrophic lateral sclerosis in a family with early onset anarthria and generalized dystonias by Siddiqi, Saima, Foo, Jia Nee, Vu, Anthony, Azim, Saad, Silver, David L, Mansoor, Atika, Tay, Stacey Kiat Hong, Abbasi, Sumiya, Hashmi, Asraf Hussain, Janjua, Jamal, Khalid, Sumbal, Tai, E Shyong, Yeo, Gene W, Khor, Chiea Chuen

“…The diagnosis of childhood neurological disorders remains challenging given the overlapping clinical presentation across subgroups and heterogeneous…”
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Biallelic variants in CHST3 cause Spondyloepiphyseal dysplasia with joint dislocations in three Pakistani kindreds by Kausar, Mehran, Ain, Noor Ul, Hayat, Farzana, Fatima, Hunain, Azim, Saad, Ullah, Hazrat, Mushtaq, Murva, Khalid, Sumbal, Hussain, Shahid, Naz, Sadaf, Janjua, Jamal, Amjad, Saad Bin, Baig, Ruqia Mehmood, Makitie, Outi, Qamar, Raheel, Ikegawa, Shiro, Gen, Nishimura, Khor, Chiea Chuen, Foo, Jia Nee, Siddiqi, Saima

“…Skeletal dysplasia is a heterogeneous group of disorders. Spondyloepiphyseal dysplasias comprise one subgroup. Deficiency of carbohydrate sulfotransferase 3…”
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Transcatheter Aortic Valve Replacement Incidentalomas: A Multimodality Imaging Case of Giant Right Coronary Aneurysm by Wittchow, Richard J., Rabindranauth, Premnauth, Odigie-Okon, Esosa G., Janjua, Jamal, Riaz, Aiman

“…Giant coronary artery aneurysms (CAAs) are defined as having a diameter of greater than 2 cm. We report a case of an 82-year-old male with severe aortic…”
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DELAYED PRESENTATION OF LEFT INTERNAL MAMMARY ARTERY GRAFT PERFORATION SUCCESSFULLY TREATED WITH BALLOON-EXPANDABLE COVERED STENT by Khawaja, Uneza, Janjua, Jamal, Wasserman, Hal, Lehmann, Timothy, Gallagher, Robert

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PAPILLARY MUSCLE ABNORMALITY AS AN ELECTROCARDIOGRAPHIC MIMICKER OF APICAL HYPERTROPHIC CARDIOMYOPATHY by Janjua, Jamal, Khawaja, Uneza, Hussam, Jaffry, Burdowski, Joseph, Galin, Ira David

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Papillary muscle abnormality as an electrocardiographic mimicker of apical hypertrophic cardiomyopathy: a case report by Janjua, Jamal, Burdowski, Joseph, Tickoo, Sumit, Galin, Ira

“…Abstract Background Apical hypertrophic cardiomyopathy (ApHCM) is often associated with characteristic giant T wave inversions (GNT) in precordial leads…”
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Osmotic nephrosis with mannitol: review article by Nomani, Ali Zohair, Nabi, Zahid, Rashid, Humayun, Janjua, Jamal, Nomani, Hanna, Majeed, Azer, Chaudry, Sohail Raza, Mazhar, Ayesha Saad

“…Mannitol is commonly used to lower intracranial and intraocular pressures. Large doses/massive infusions of mannitol have been found to be associated with…”
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Analysis of pattern of mortality in Medicine and Allied Departments at a tertiary care hospital in Islamabad: A losing battle against sepsis by Azim, Saad, Zahoor, Sidra, Janjua, Jamal, Majeed, Azer, Hussain, Syed Waqar

“…To identify the pattern of mortality in medical wards of a tertiary care hospital. This retrospective study was conducted at the Khan Research Laboratories…”
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Role of Echocardiography in the Diagnosis of Aorto-Right Ventricular Fistula: A Rare Complication of Surgical Aortic Valve Replacement Successfully Closed by Bovine Pericardial Patch by Janjua, Jamal, Witcik, Michael A., Riaz, Aiman, Ailiani, Raju G.

“…[Display omitted] •AoRV fistula is a rare complication of prosthetic aortic valve replacement.•A high index of suspicion is required for…”
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A Novel Splice-Site Mutation in ALS2 Establishes the Diagnosis of Juvenile Amyotrophic Lateral Sclerosis in a Family with Early Onset Anarthria and Generalized Dystonias: e113258 by Siddiqi, Saima, Foo, Jia Nee, Vu, Anthony, Azim, Saad, Silver, David L, Mansoor, Atika, Tay, Stacey KiatHong, Abbasi, Sumiya, Hashmi, Asraf Hussain, Janjua, Jamal

“…The diagnosis of childhood neurological disorders remains challenging given the overlapping clinical presentation across subgroups and heterogeneous…”
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Papillary muscle abnormality as an electrocardiographic mimicker of apical hypertrophic cardiomyopathy: a case report by Janjua, Jamal, Burdowski, Joseph, Tickoo, Sumit, Galin, Ira

“…BackgroundApical hypertrophic cardiomyopathy (ApHCM) is often associated with characteristic giant T wave inversions (GNT) in precordial leads without septal Q…”
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Role of Echocardiography in the Diagnosis of Aorto-Right Ventricular Fistula: A Rare Complication of Surgical Aortic Valve Replacement Successfully Closed by Bovine Pericardial Patch by Janjua, Jamal, Witcik, Michael A, Riaz, Aiman, Ailiani, Raju G

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