Neuropathy due to impaired axonal transport of non-fragmented mitochondria in MYH14 mutation carriers—Authors’ reply

द्वारा Pfeffer, Gerald, Innes, A. Micheil, Shutt, Timothy E.
में प्रकाशित EBioMedicine (2019)

Intracerebral hemorrhage in a young man

द्वारा Coutts, Shelagh B., Matysiak-Scholze, Uta, Kohlhase, Jürgen, Innes, A. Micheil
प्रकाशित 2011

A rational approach to the child with mental retardation for the paediatrician

द्वारा Lemay, Jean-François, Herbert, Anthony R, Dewey, Deborah M, Innes, A Micheil
प्रकाशित 2003

An unusual tumor spectrum in Lynch syndrome caused by MSH6 mutation

द्वारा Perrier, Renee L, Van Galen, Paulein, Pasieka, Janice L, Magliocco, Tony, Innes, A Micheil
प्रकाशित 2010

The de novo CACNA1A pathogenic variant Y1384C associated with hemiplegic migraine, early onset cerebellar atrophy and developmental delay leads to a loss of Cav2.1 channel function

द्वारा Gandini, Maria A., Souza, Ivana A., Ferron, Laurent, Innes, A. Micheil, Zamponi, Gerald W.
में प्रकाशित Mol Brain (2021)

Skeletal Phenotypes Due to Abnormalities in Mitochondrial Protein Homeostasis and Import

द्वारा Zhao, Tian, Goedhart, Caitlin, Pfeffer, Gerald, Greenway, Steven C, Lines, Matthew, Khan, Aneal, Innes, A Micheil, Shutt, Timothy E
में प्रकाशित Int J Mol Sci (2020)

Myofibrillar myopathy due to TTN mutation in a Canadian family sharing the British founder haplotype

द्वारा Pfeffer, Gerald, Joseph, Jeffrey T., Innes, A. Micheil, Frizzell, J. Bevan, Wilson, Ian J., Brownell, A. Keith W., Chinnery, Patrick F.
में प्रकाशित Can J Neurol Sci (2014)

Development of a diagnostic DNA chip to screen for 30 autosomal recessive disorders in the Hutterite population

द्वारा Triggs‐Raine, Barbara, Dyck, Tamara, Boycott, Kym M., Innes, A. Micheil, Ober, Carole, Parboosingh, Jillian S., Botkin, Alexis, Greenberg, Cheryl R., Spriggs, Elizabeth L.
में प्रकाशित Mol Genet Genomic Med (2016)

Congenital rickets caused by maternal vitamin D deficiency

द्वारा Innes, A Micheil, Seshia, Molly M, Prasad, Chitra, Al Saif, Saif, Friesen, Frank R, Chudley, Albert E, Reed, Martin, Dilling, Louise A, Haworth, James C, Greenberg, Cheryl R
प्रकाशित 2002

GeneMatcher Aids in the Identification of a New Malformation Syndrome with Intellectual Disability, Unique Facial Dysmorphisms, and Skeletal and Connective Tissue Abnormalities Cau...

द्वारा Au, P.Y. Billie, You, Jing, Caluseriu, Oana, Schwartzentruber, Jeremy, Majewski, Jacek, Bernier, Francois P., Ferguson, Marcia, Valle, David, Parboosingh, Jillian S., Sobreira, Nara, Innes, A. Micheil, Kline, Antonie D.
में प्रकाशित Hum Mutat (2015)

A Shared Founder Mutation Underlies Restrictive Dermopathy in Old Colony (Dutch-German) Mennonite and Hutterite Patients in North America

द्वारा Loucks, Catrina, Parboosingh, Jillian S., Chong, Jessica X., Ober, Carole, Siu, Victoria M., Hegele, Robert A., Rupar, C. Anthony, McLeod, D. Ross, Pinto, Alfredo, Chudley, Albert E., Innes, A. Micheil
में प्रकाशित Am J Med Genet A (2012)

Biallelic Mutations in BRCA1 Cause a New Fanconi Anemia Subtype

द्वारा Sawyer, Sarah L., Tian, Lei, Kähkönen, Marketta, Schwartzentruber, Jeremy, Kircher, Martin, Majewski, Jacek, Dyment, David A., Innes, A. Micheil, Boycott, Kym M., Moreau, Lisa A., Moilanen, Jukka S., Greenberg, Roger A.
में प्रकाशित Cancer Discov (2014)

RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans

द्वारा Shamseldin, Hanan, Alazami, Anas M., Manning, Melanie, Hashem, Amal, Caluseiu, Oana, Tabarki, Brahim, Esplin, Edward, Schelley, Susan, Innes, A. Micheil, Parboosingh, Jillian S., Lamont, Ryan, Majewski, Jacek, Bernier, Francois P., Alkuraya, Fowzan S.
में प्रकाशित Am J Hum Genet (2015)

A Peroxisomal Disorder of Severe Intellectual Disability, Epilepsy, and Cataracts Due to Fatty Acyl-CoA Reductase 1 Deficiency

द्वारा Buchert, Rebecca, Tawamie, Hasan, Smith, Christopher, Uebe, Steffen, Innes, A. Micheil, Al Hallak, Bassam, Ekici, Arif B., Sticht, Heinrich, Schwarze, Bernd, Lamont, Ryan E., Parboosingh, Jillian S., Bernier, Francois P., Abou Jamra, Rami
में प्रकाशित Am J Hum Genet (2014)

Matching two independent cohorts validates DPH1 as a gene responsible for autosomal recessive intellectual disability with short stature, craniofacial and ectodermal anomalies

द्वारा Loucks, Catrina M., Parboosingh, Jillian S., Shaheen, Ranad, Bernier, Francois P., McLeod, D. Ross, Seidahmed, Mohammed Z., Puffenberger, Erik G., Ober, Carole, Hegele, Robert A., Boycott, Kym M., Alkuraya, Fowzan S., Innes, A. Micheil
में प्रकाशित Hum Mutat (2015)

Biallelic sequence variants in INTS1 in patients with developmental delays, cataracts, and craniofacial anomalies

द्वारा Krall, Max, Htun, Stephanie, Schnur, Rhonda E., Brooks, Alice S., Baker, Laura, de Alba Campomanes, Alejandra, Lamont, Ryan E., Gripp, Karen W., Schneidman-Duhovny, Dina, Innes, A. Micheil, Mancini, Grazia M. S., Slavotinek, Anne M.
में प्रकाशित Eur J Hum Genet (2019)

De novo substitutions of TRPM3 cause intellectual disability and epilepsy

द्वारा Dyment, David A., Terhal, Paulien A., Rustad, Cecilie F., Tveten, Kristian, Griffith, Christopher, Jayakar, Parul, Shinawi, Marwan, Ellingwood, Sara, Smith, Rosemarie, van Gassen, Koen, McWalter, Kirsty, Innes, A. Micheil, Lines, Matthew A.
में प्रकाशित Eur J Hum Genet (2019)

Prenatal features of Costello syndrome: Ultrasonographic findings and atrial tachycardia

द्वारा Lin, Angela E., O’Brien, Barbara, Demmer, Laurie A., Almeda, Kristina K., Blanco, Cynthia L., Glasow, Patrick F., Berul, Charles I., Hamilton, Robert, Innes, A. Micheil, Lauzon, Julie L., Sol-Church, Katia, Gripp, Karen W.
में प्रकाशित Prenat Diagn (2009)

Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis

द्वारा van Dijk, Tessa, Ferdinandusse, Sacha, Ruiter, Jos P. N., Alders, Mariëlle, Mathijssen, Inge B., Parboosingh, Jillian S., Innes, A. Micheil, Meijers-Heijboer, Hanne, Poll-The, Bwee Tien, Bernier, Francois P., Wanders, Ronald J. A., Lamont, Ryan E., Baas, Frank
में प्रकाशित Eur J Hum Genet (2018)

PISD is a mitochondrial disease gene causing skeletal dysplasia, cataracts, and white matter changes

द्वारा Zhao, Tian, Goedhart, Caitlin M, Sam, Pingdewinde N, Sabouny, Rasha, Lingrell, Susanne, Cornish, Adam J, Lamont, Ryan E, Bernier, Francois P, Sinasac, David, Parboosingh, Jillian S, Vance, Jean E, Claypool, Steven M, Innes, A Micheil, Shutt, Timothy E
में प्रकाशित Life Sci Alliance (2019)