All papers authored by Irini Manoli
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Silvio Alessandro Di Gioia ,
Bryn D. Webb,
Wai-Man Chan ,
Elke de Boer ,
Sarah J. Garnai ,
Brenda J. Barry,
Tammy Ray,
Michael Kosicki,
Caroline D. Robson ,
Zhongyang Zhang ,
Thomas E. Collins,
Alon Gelber,
Brandon M. Pratt
and 44 other authors
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Helen Fryssira
Medical genetics and genomic medicine in Greece: achievements and challenges
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Charles P. Venditti
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Charles P. Venditti
Methylmalonic acidemia (MMA) in pregnancy: a case series and literature review
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C. P. Venditti
MRI Characteristics of Globus Pallidus Infarcts in Isolated Methylmalonic Acidemia
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J. Mitchell,
M. Nordwall,
C. Prasad,
F. Scaglia
and 11 other authors
Update on transcobalamin deficiency: Clinical presentation, treatment and outcome
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Jennifer L. Sloan,
Gunter Scharer,
Alison Brebner,
Anita M. Quintana,
Nathan P. Achilly,
Irini Manoli ,
Curtis R. Coughlin,
Elizabeth A. Geiger,
Una Schneck,
David Watkins,
Terttu Suormala,
Johan L. K. Van Hove,
Brian Fowler,
Matthias R. Baumgartner
and 3 other authors
An X-Linked Cobalamin Disorder Caused by Mutations in Transcriptional Coregulator HCFC1
Download from www.ncbi.nlm.nih.gov
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Sysol Jr,
Justin R. Sysol,
Lingli Li,
Pascal Houillier,
Caterina Garone,
Cindy Wang,
Patricia M. Zerfas,
Zerfas Pm,
Kristina Cusmano-Ozog,
Sarah Young,
Trivedi Ns,
Niraj S. Trivedi,
Jun Cheng,
Sloan Jl
and 17 other authors
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Jennifer L. Sloan,
Jeffrey B. Kopp ,
Charles P. Venditti
Renal growth in isolated methylmalonic acidemia
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Justin Y. Kwan,
Elisabeth J. Rushing,
Qian Wang,
Maria Tsokos,
Andrew E. Arai,
Warner M. Burch,
Angela Dispenzieri,
William A. Gahl,
Alexandra C. McPherron
Chronic myopathy due to immunoglobulin light chain amyloidosis
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Charles P. Venditti,
Joseph Snow
Neurocognitive Phenotype of Isolated Methylmalonic Acidemia
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Daniel Darvish,
Shelley Hoogstraten-Miller,
Patricia Zerfas,
E. Tian,
Kelly G. Ten Hagen,
Jeffrey B. Kopp ,
William A. Gahl,
Marjan Huizing
The Gne M712T Mouse as a Model for Human Glomerulopathy
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Randy J. Chandler,
Caitlin Krause,
Nuria Carrillo-Carrasco,
Suma D. Chandrasekaran,
Justin R. Sysol,
Kevin O'Brien,
Natalie S. Hauser,
Julie C. Sapp,
Heidi M. Dorward,
Marjan Huizing,
Bruce A. Barshop,
Susan A. Berry
and 9 other authors
Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria
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Jennifer C. Graf,
Jennifer Sloan,
Charles P. Venditti
Variable dietary management of methylmalonic acidemia: metabolic and energetic correlations
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Gretchen Golas,
Wendy Westbroek,
Thierry Vilboux,
Thomas C. Markello,
Wendy Introne,
Dawn Maynard,
Ben Pederson,
Ekaterini Tsilou,
Michael B. Jordan,
P. Suzanne Hart,
P. Suzanne Hart,
James G. White,
William A. Gahl,
Marjan Huizing
Download from www.ncbi.nlm.nih.gov
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Kevin J. O’Brien,
Ekaterina Tsilou,
James G. White,
Marjan Huizing,
William A. Gahl
Hermansky-Pudlak Syndrome in Two African-American Brothers
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Sujata Kelkar,
Yonghong Wang,
Yan A. Su,
George P. Chrousos
Glucocorticoid receptor (GR) β has intrinsic, GRα-independent transcriptional activity
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