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Use of dexamethasone in idiopathic, acute pediatric rhabdomyolysis.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 500, doi. 10.1002/ajmg.a.62000
By:
- Summerlin, Maxwell L.;
- Regier, Debra S.;
- Fraser, Jamie L.;
- Chapman, Kimberly A.;
- Kafashzadeh, Dariush;
- Billington, Charles;
- Kisling, Monisha;
- Grochowsky, Angela;
- Ah Mew, Nicholas;
- Shur, Natasha
Publication type:
Article
Rapid deployment of a telemedicine care model for genetics and metabolism during COVID‐19.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 68, doi. 10.1002/ajmg.a.61911
By:
- Shur, Natasha;
- Atabaki, Shireen M.;
- Kisling, Monisha S.;
- Tabarani, Abir;
- Williams, Clarence;
- Fraser, Jamie L.;
- Regier, Debra;
- Summar, Marshall
Publication type:
Article
Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1713, doi. 10.1002/ajmg.a.36552
By:
- Keppler‐Noreuil, Kim M.;
- Sapp, Julie C.;
- Lindhurst, Marjorie J.;
- Parker, Victoria E.R.;
- Blumhorst, Cathy;
- Darling, Thomas;
- Tosi, Laura L.;
- Huson, Susan M.;
- Whitehouse, Richard W.;
- Jakkula, Eveliina;
- Grant, Ian;
- Balasubramanian, Meena;
- Chandler, Kate E.;
- Fraser, Jamie L.;
- Gucev, Zoran;
- Crow, Yanick J.;
- Brennan, Leslie Manace;
- Clark, Robin;
- Sellars, Elizabeth A.;
- Pena, Loren DM
Publication type:
Article
Transplantation of Embryonic Stem Cells Improves Nerve Repair and Functional Recovery After Severe Sciatic Nerve Axotomy in Rats.
Published in:
Stem Cells, 2008, v. 26, n. 5, p. 1356, doi. 10.1634/stemcells.2007-0333
By:
- LIN CUI;
- JUN JIANG;
- LING WEI;
- XIN ZHOU;
- FRASER, JAMIE L.;
- SNIDER, JOY B.;
- SHAN PING YU
Publication type:
Article
Enasidenib-induced hepatitis in an individual with Type II D2-hydroxyglutaric aciduria.
Published in:
Journal of Inherited Metabolic Disease Reports, 2024, v. 65, n. 3, p. 156, doi. 10.1002/jmd2.12421
By:
- Gold, Jessica I.;
- Stefanatos, Arianna K.;
- Fraser, Jamie L.;
- Vanderver, Adeline;
- Cuddapah, Sanmati
Publication type:
Article
Randomized Clinical Trial of First-Line Genome Sequencing in Pediatric White Matter Disorders.
Published in:
2020
By:
- Vanderver, Adeline;
- Bernard, Geneviève;
- Helman, Guy;
- Sherbini, Omar;
- Boeck, Ryan;
- Cohn, Jeffrey;
- Collins, Abigail;
- Demarest, Scott;
- Dobbins, Katherine;
- Emrick, Lisa;
- Fraser, Jamie L.;
- Masser‐Frye, Diane;
- Hayward, Jean;
- Karmarkar, Swati;
- Keller, Stephanie;
- Mirrop, Samuel;
- Mitchell, Wendy;
- Pathak, Sheel;
- Sherr, Elliott;
- Haren, Keith
Publication type:
journal article
Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors.
Published in:
2017
By:
- Ortigoza‐Escobar, Juan Darío;
- Alfadhel, Majid;
- Molero‐Luis, Marta;
- Darin, Niklas;
- Spiegel, Ronen;
- de Coo, Irenaeus F.;
- Gerards, Mike;
- Taylor, Robert W.;
- Artuch, Rafael;
- Nashabat, Marwan;
- Rodríguez‐Pombo, Pilar;
- Tabarki, Brahim;
- Pérez‐Dueñas, Belén;
- Distelmaier, Felix;
- Hahn, Andreas;
- Morava, Eva;
- Banka, Siddharth;
- Debs, Rabab;
- Fraser, Jamie L.;
- Isohanni, Pirjo
Publication type:
journal article
Hodgkin lymphoma in an individual with TREX1‐mediated Aicardi Goutières syndrome.
Published in:
Pediatric Blood & Cancer, 2022, v. 69, n. 1, p. 1, doi. 10.1002/pbc.29322
By:
- Gavazzi, Francesco;
- Fraser, Jamie L.;
- Bloom, Miriam;
- Tochen, Laura;
- Rhee, Jullie;
- Kwan, Megan;
- Victoria, Teresa;
- Teachey, David T.;
- Ho, Cheng‐Ying;
- Vanderver, Adeline;
- Linn, Rebecca L.
Publication type:
Article
Fosmetpantotenate Randomized Controlled Trial in Pantothenate Kinase–Associated Neurodegeneration.
Published in:
Movement Disorders, 2021, v. 36, n. 6, p. 1342, doi. 10.1002/mds.28392
By:
- Klopstock, Thomas;
- Videnovic, Aleksandar;
- Bischoff, Almut Turid;
- Bonnet, Cecilia;
- Cif, Laura;
- Comella, Cynthia;
- Correa‐Vela, Marta;
- Escolar, Maria L.;
- Fraser, Jamie L.;
- Gonzalez, Victoria;
- Hermanowicz, Neal;
- Jech, Robert;
- Jinnah, Hyder A.;
- Kmiec, Tomasz;
- Lang, Anthony;
- Martí, Maria J.;
- Mercimek‐Andrews, Saadet;
- Monduy, Migvis;
- Nimmo, Graeme A.M.;
- Perez‐Dueñas, Belen
Publication type:
Article
Fosmetpantotenate Randomized Controlled Trial in Pantothenate Kinase–Associated Neurodegeneration.
Published in:
Movement Disorders, 2021, v. 36, n. 6, p. 1342, doi. 10.1002/mds.28392
By:
- Klopstock, Thomas;
- Videnovic, Aleksandar;
- Bischoff, Almut Turid;
- Bonnet, Cecilia;
- Cif, Laura;
- Comella, Cynthia;
- Correa‐Vela, Marta;
- Escolar, Maria L.;
- Fraser, Jamie L.;
- Gonzalez, Victoria;
- Hermanowicz, Neal;
- Jech, Robert;
- Jinnah, Hyder A.;
- Kmiec, Tomasz;
- Lang, Anthony;
- Martí, Maria J.;
- Mercimek‐Andrews, Saadet;
- Monduy, Migvis;
- Nimmo, Graeme A.M.;
- Perez‐Dueñas, Belen
Publication type:
Article
Prenatal diagnosis of diencephalic‐mesencephalic junction dysplasia: Fetal magnetic resonance imaging phenotypes, genetic diagnoses, and outcomes.
Published in:
Prenatal Diagnosis, 2021, v. 41, n. 6, p. 778, doi. 10.1002/pd.5909
By:
- Lawrence, Anne K.;
- Whitehead, Matthew T.;
- Kruszka, Paul;
- Sanapo, Laura;
- Yano, Sho;
- Tanpaiboon, Pranoot;
- Muenke, Maximilian;
- Fraser, Jamie L.;
- du Plessis, Adre J.
Publication type:
Article
Prenatal diagnosis of diencephalic-mesencephalic junction dysplasia: Fetal magnetic resonance imaging phenotypes, genetic diagnoses, and outcomes.
Published in:
2021
By:
- Lawrence, Anne K.;
- Whitehead, Matthew T.;
- Kruszka, Paul;
- Sanapo, Laura;
- Yano, Sho;
- Tanpaiboon, Pranoot;
- Muenke, Maximilian;
- Fraser, Jamie L.;
- du Plessis, Adre J.
Publication type:
journal article
Using MRI derived observed to expected total lung volume to predict lethality in fetal skeletal dysplasia.
Published in:
Pediatric Radiology, 2024, v. 54, n. 5, p. 854, doi. 10.1007/s00247-024-05893-w
By:
- Bulas, Dorothy I.;
- Fraser, Jamie L.;
- Cilli, Kate
Publication type:
Article
Correction to: Hippocampal rotation is associated with ventricular atrial size.
Published in:
2023
By:
- Whitehead, Matthew T.;
- Limperopoulos, Catherine;
- Schlatterer, Sarah D.;
- Mulkey, Sarah B.;
- Fraser, Jamie L.;
- du Plessis, Adre J.
Publication type:
Correction Notice
Hippocampal rotation is associated with ventricular atrial size.
Published in:
Pediatric Radiology, 2023, v. 53, n. 9, p. 1941, doi. 10.1007/s00247-023-05687-6
By:
- Whitehead, Matthew T.;
- Limperopoulos, Catherine;
- Schlatterer, Sarah D.;
- Mulkey, Sarah B.;
- Fraser, Jamie L.;
- du Plessis, Adre J.
Publication type:
Article

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