Mhanni, Aizeddin A: search on Z-Library

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1

Genetic Counseling in a Busy Pediatric Metabolic Practice

Jessica N. Hartley, Cheryl R. Greenberg, Aizeddin A. Mhanni

Journal:

Journal of Genetic Counseling

Year:

2011

Language:

english

File:

PDF, 153 KB

english, 2011

2

Germline mosaicism in X-linked periventricular nodular heterotopia

LaPointe, Monique M, Spriggs, Elizabeth L, Mhanni, Aizeddin A

Journal:

Year:

2014

Language:

english

File:

PDF, 312 KB

english, 2014

3

Reflex Seizures in a Patient with CDKL5 Deficiency Disorder

Peikes, Tyler, Hartley, Jessica N., Mhanni, Aizeddin A., Greenberg, Cheryl R., Appendino, Juan Pablo

Journal:

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques

Year:

2019

Language:

english

File:

PDF, 1.54 MB

english, 2019

4

Recurrent Acute Necrotizing Encephalopathy in a Canadian Aboriginal Child

Howayyer, Essam, Mhanni, Aizeddin A., Wrogemann, Jens, Salman, Michael S.

Journal:

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques

Year:

2011

Language:

english

File:

PDF, 160 KB

english, 2011

5

Prolonged Survival and Serial Magnetic Resonance Imaging/Magnetic Resonance Spectroscopy Changes in Infantile Krabbe Disease

Sean Udow, Martin Bunge, Lawrence Ryner, Aizeddin A. Mhanni, Michael S. Salman

Journal:

Pediatric Neurology

Year:

2012

Language:

english

File:

PDF, 262 KB

english, 2012

6

Achieving the “triple aim” for inborn errors of metabolism: a review of challenges to outcomes research and presentation of a new practice-based evidence framework

Potter, Beth K., Chakraborty, Pranesh, Kronick, Jonathan B., Wilson, Kumanan, Coyle, Doug, Feigenbaum, Annette, Geraghty, Michael T., Karaceper, Maria D., Little, Julian, Mhanni, Aizeddin, Mitchell, J

Journal:

Genetics in Medicine

Year:

2013

Language:

english

File:

PDF, 467 KB

english, 2013

7

Chromosome Microarray and Undiagnosed Seizures in a Pediatric Patient

Dawson, Angelika J., Mhanni, Aizeddin A., Booth, Frances A., Seargeant, Lorne, Bernier, Daniele, Tomiuk, Michelle, Hartley, Jessica N., Strecker, Michelle, Hovanes, Karine

Journal:

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques

Year:

2014

Language:

english

File:

PDF, 239 KB

english, 2014

8

SETX gene novel mutations in a non-French Canadian with ataxia-oculomotor apraxia type 2

Sadik Ghrooda, Andrew Borys, Elizabeth Spriggs, Madhuri Hegde, Aizeddin Mhanni

Journal:

Parkinsonism & Related Disorders

Year:

2012

Language:

english

File:

PDF, 92 KB

english, 2012

9

Fetal hepatic haemangioendothelioma: a new association with elevated maternal serum alpha-fetoprotein

Aizeddin A. Mhanni, Bernard N. Chodirker, Jane A. Evans, Savas Menticouglou, Nathan Wiseman, Nigel MacDonald, Albert E. Chudley

Journal:

Prenatal Diagnosis

Year:

2000

Language:

english

File:

PDF, 55 KB

english, 2000

10

Ketogenic Diet in Alpers-Huttenlocher Syndrome

Charuta N. Joshi, Cheryl R. Greenberg, Aizeddin A. Mhanni, Michael S. Salman

Journal:

Pediatric Neurology

Year:

2009

Language:

english

File:

PDF, 311 KB

english, 2009

11

GPSM2 Mutations Cause the Brain Malformations and Hearing Loss in Chudley-McCullough Syndrome

Dan Doherty, Albert E. Chudley, Gail Coghlan, Gisele E. Ishak, A. Micheil Innes, Edmond G. Lemire, R. Curtis Rogers, Aizeddin A. Mhanni, Ian G. Phelps, Steven J.M. Jones, Shing H. Zhan, Anthony P. Fej

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 34 KB

english, 2012

12

Novel splice variants associated with one of the zebrafishdnmt3genes

Tamara HL Smith, Christine C Dueck, Aizeddin A Mhanni, Ross A McGowan

Journal:

BMC Developmental Biology

Year:

2005

Language:

english

File:

PDF, 349 KB

english, 2005

13

Genetic landmarks through philately – Kabuki theater and Kabuki syndrome

Aizeddin A Mhanni, Albert E Chudley

Journal:

Clinical Genetics

Year:

1999

Language:

english

File:

PDF, 163 KB

english, 1999

14

Novel Autosomal Recessive c10orf2 Mutations Causing Infantile-Onset Spinocerebellar Ataxia

Hartley, Jessica N., Booth, Frances A., Del Bigio, Marc R., Mhanni, Aizeddin A.

Journal:

Case Reports in Pediatrics

Year:

2012

Language:

english

File:

PDF, 2.46 MB

english, 2012

15

Immunological detection of changes in genomic DNA methylation during early zebrafish development

Danzmann, Roy, MacKay, Amy B., Mhanni, Aizeddin A., McGowan, Ross A., Krone, Patrick H.

Journal:

Year:

2007

Language:

english

File:

PDF, 937 KB

english, 2007

16

Cloning and sequence analysis of a zebrafish cDNA encoding DNA (cytosine-5)-methyltransferase-1

Aizeddin A. Mhanni, Jeffrey A. Yoder, Christa Dubesky, Ross A. McGowan

Journal:

Year:

2001

Language:

english

File:

PDF, 526 KB

english, 2001

17

Trends in Telehealth versus On-site Clinical Genetics Appointments in Manitoba: A Comparative Study

Alison M. Elliott, Aizeddin A. Mhanni, Sandra L. Marles, Cheryl R. Greenberg, Albert E. Chudley, Gwendolyne C. Nyhof, Bernard N. Chodirker

Journal:

Journal of Genetic Counseling

Year:

2012

Language:

english

File:

PDF, 402 KB

english, 2012

18

GPSM2 Mutations Cause the Brain Malformations and Hearing Loss in Chudley-McCullough Syndrome

Dan Doherty, Albert E. Chudley, Gail Coghlan, Gisele E. Ishak, A. Micheil Innes, Edmond G. Lemire, R. Curtis Rogers, Aizeddin A. Mhanni, Ian G. Phelps, Steven J.M. Jones, Shing H. Zhan, Anthony P. Fej

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 494 KB

english, 2012

19

Ornithine Transcarbamylase Deficiency Presenting as Recurrent Abdominal Pain in Childhood

Mhanni, Aizeddin A., Prasad, Chitra, Rockman-Greenberg, Cheryl

Journal:

Pediatric Emergency Care

Year:

2011

Language:

english

File:

PDF, 223 KB

english, 2011

20

Evaluation of a Clinical Genetics Service – A Quality Initiative

Elliott, Alison M., Chodirker, Bernard N., Bocangel, Patricia, Mhanni, Aizeddin A.

Journal:

Journal of Genetic Counseling

Year:

2014

Language:

english

File:

PDF, 197 KB

english, 2014

21

Variations in DNA (cytosine-5)-methyltransferase-1 expression during oogenesis and early development of the zebrafish

Aizeddin A. Mhanni, Ross A. McGowan

Journal:

Development Genes and Evolution

Year:

2002

Language:

english

File:

PDF, 206 KB

english, 2002

22

Vertical transmission of the Ohdo blepharophimosis syndrome

Mhanni, Aizeddin A., Dawson, Angelika J., Chudley, Albert E.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 326 KB

english, 1998

23

Therapeutic challenges in two adolescent male patients with Fabry disease and high antibody titres

Mhanni, Aizeddin A., Auray-Blais, Christiane, Boutin, Michel, Johnston, Alie, LeMoine, Kaye, Patterson, Jill, Aerts, Johannes M.F.G., West, Michael L., Rockman-Greenberg, Cheryl

Journal:

Molecular Genetics and Metabolism Reports

Year:

2020

File:

PDF, 853 KB

2020

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