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Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.
Published in:
BMC Pediatrics, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12887-023-04393-4
By:
- Iverson, Ryan;
- Taljaard, Monica;
- Geraghty, Michael T.;
- Pugliese, Michael;
- Tingley, Kylie;
- Coyle, Doug;
- Kronick, Jonathan B.;
- Wilson, Kumanan;
- Austin, Valerie;
- Brunel-Guitton, Catherine;
- Buhas, Daniela;
- Butcher, Nancy J.;
- Chan, Alicia K. J.;
- Dyack, Sarah;
- Goobie, Sharan;
- Greenberg, Cheryl R.;
- Jain-Ghai, Shailly;
- Inbar-Feigenberg, Michal;
- Karp, Natalya;
- Kozenko, Mariya
Publication type:
Article
Haploinsufficiency of SF3B2 causes craniofacial microsomia.
Published in:
Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-24852-9
By:
- Timberlake, Andrew T.;
- Griffin, Casey;
- Heike, Carrie L.;
- Hing, Anne V.;
- Cunningham, Michael L.;
- Chitayat, David;
- Davis, Mark R.;
- Doust, Soghra J.;
- Drake, Amelia F.;
- Duenas-Roque, Milagros M.;
- Goldblatt, Jack;
- Gustafson, Jonas A.;
- Hurtado-Villa, Paula;
- Johns, Alexis;
- Karp, Natalya;
- Laing, Nigel G.;
- Magee, Leanne;
- Mullegama, Sureni V.;
- Pachajoa, Harry;
- Porras-Hurtado, Gloria L.
Publication type:
Article
Distal arthrogryposis type 5 and PIEZO2 novel variant in a Canadian family.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 1034, doi. 10.1002/ajmg.a.61143
By:
- Zapata‐Aldana, Eugenio;
- Al‐Mobarak, Sulaiman B.;
- Karp, Natalya;
- Campbell, Craig
Publication type:
Article
Fièvre et polysérite causées par la fièvre méditerranéenne familiale chez une jeune femme.
Published in:
Canadian Medical Association Journal (CMAJ), 2023, v. 195, n. 22, p. E792, doi. 10.1503/cmaj.220789-f
By:
- Richard, Kayla;
- Glazer, Sara;
- Demirkaya, Erkan;
- Karp, Natalya
Publication type:
Article
A young woman with fever and polyserositis caused by familial Mediterranean fever.
Published in:
Canadian Medical Association Journal (CMAJ), 2023, v. 195, n. 11, p. E404, doi. 10.1503/cmaj.220789
By:
- Richard, Kayla;
- Glazer, Sara;
- Demirkaya, Erkan;
- Karp, Natalya
Publication type:
Article
Severe Methylenetetrahydrofolate Reductase Deficiency Clinical Clues to a Potentially Treatable Cause of Adult-Onset Hereditary Spastic Paraplegia.
Published in:
JAMA Neurology, 2014, v. 71, n. 7, p. 901, doi. 10.1001/jamaneurol.2014.116
By:
- Lossos, Alexander;
- Teltsh, Omri;
- Milman, Tsipi;
- Meiner, Vardiella;
- Rozen, Rima;
- Leclerc, Daniel;
- Schwahn, Bernd C.;
- Karp, Natalya;
- Rosenblatt, David S.;
- Watkins, David;
- Shaag, Avraham;
- Korman, Stanley H.;
- Heyman, Samuel N.;
- Gal, Aya;
- Newman, J. P.;
- Steiner-Birmanns, Bettina;
- Abramsky, Oded;
- Kohn, Yoav
Publication type:
Article
Expanding the phenotypic and molecular spectrum of NFS1‐related disorders that cause functional deficiencies in mitochondrial and cytosolic iron–sulfur cluster containing enzymes.
Published in:
Human Mutation, 2022, v. 43, n. 3, p. 305, doi. 10.1002/humu.24330
By:
- Yang, Jennifer H.;
- Friederich, Marisa W.;
- Ellsworth, Katarzyna A.;
- Frederick, Aliya;
- Foreman, Emily;
- Malicki, Denise;
- Dimmock, David;
- Lenberg, Jerica;
- Prasad, Chitra;
- Yu, Andrea C.;
- Anthony Rupar, C.;
- Hegele, Robert A.;
- Manickam, Kandamurugu;
- Koboldt, Daniel C.;
- Crist, Erin;
- Choi, Samantha S.;
- Farhan, Sali M.K.;
- Harvey, Helen;
- Sattar, Shifteh;
- Karp, Natalya
Publication type:
Article
Genetic Testing in Children with Epilepsy: Report of a Single-Center Experience.
Published in:
Canadian Journal of Neurological Sciences, 2021, v. 48, n. 2, p. 233, doi. 10.1017/cjn.2020.167
By:
- Lee, So;
- Karp, Natalya;
- Zapata-Aldana, Eugenio;
- Sadikovic, Bekim;
- Yang, Ping;
- Balci, Tugce B;
- Prasad, Asuri N
Publication type:
Article

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