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Bartholomew, Dennis
116
results:
Search for persons
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Online (116)
Mediatypes
Articles (Online) (65)
Bookchapter (Online) (1)
OpenAccess-fulltext (47)
Audio (Online) (3)
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1
ECHS1 DEFICIENCY PRESENTING AS LETHAL NEONATAL LACTIC ACIDO..:
Mori, Mari
;
Villa, Caterina Abdala
;
Zinsmeister, Michael
...
Molecular Genetics and Metabolism. 138 (2023) 3 - p. 107463 , 2023
Link:
https://doi.org/10.1016/..
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2
Phenotypic Spectrum in a Family Sharing a Heterozygous KCNQ..:
Arredondo, Kristen
;
Myers, Cortlandt
;
Hansen-Kiss, Emily
...
Journal of Child Neurology. 37 (2022) 6 - p. 517-523 , 2022
Link:
https://doi.org/10.1177/..
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3
Evaluating the mutational spectrum of SIN3A alterations: a ..:
Hickey, Scott
;
Bartholomew, Dennis
;
Truxal, Kristen
...
Molecular Genetics and Metabolism. 132 (2021) - p. S271-S272 , 2021
Link:
https://doi.org/10.1016/..
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4
Utility of specific amino acid ratios in screening for pyru..:
Bedoyan, Jirair
;
Hage, Rosemary
;
Shin, Ha Kyung
...
Molecular Genetics and Metabolism. 132 (2021) - p. S6-S7 , 2021
Link:
https://doi.org/10.1016/..
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5
Pathogenic variants inSMARCA5, a chromatin remodeler, cause..:
Li, Dong
;
Wang, Qin
;
Gong, Naihua N.
...
Science Advances. 7 (2021) 20 - p. , 2021
Link:
https://doi.org/10.1126/..
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6
Utility of specific amino acid ratios in screening for pyru..:
Bedoyan, Jirair K.
;
Hage, Rosemary
;
Shin, Ha Kyung
...
JIMD Reports. 56 (2020) 1 - p. 70-81 , 2020
Link:
https://doi.org/10.1002/..
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7
Long-term safety and efficacy of glycerol phenylbutyrate fo..:
Diaz, George A.
;
Schulze, Andreas
;
Longo, Nicola
...
Molecular Genetics and Metabolism. 127 (2019) 4 - p. 336-345 , 2019
Link:
https://doi.org/10.1016/..
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8
Phenylalanine and tyrosine measurements across gestation by..:
McBride, Kim L.
;
Pluciniczak, Jill
;
Rhyand, Timothy
.
Genetics in Medicine. 21 (2019) 8 - p. 1821-1826 , 2019
Link:
https://doi.org/10.1038/..
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9
Three additional patients with EED-associated overgrowth: p..:
Spellicy, Catherine J.
;
Peng, Yunhui
;
Olewiler, Leah
...
Journal of Human Genetics. 64 (2019) 6 - p. 561-572 , 2019
Link:
https://doi.org/10.1038/..
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10
Clinically severe CACNA1A alleles affect synaptic function ..:
Luo, Xi
;
Rosenfeld, Jill A.
;
Yamamoto, Shinya
...
PLOS Genetics. 13 (2017) 7 - p. e1006905 , 2017
Link:
https://doi.org/10.1371/..
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11
Clinical course of sly syndrome (mucopolysaccharidosis type..:
Montaño, Adriana M
;
Lock-Hock, Ngu
;
Steiner, Robert D
...
Journal of Medical Genetics. 53 (2016) 6 - p. 403-418 , 2016
Link:
https://doi.org/10.1136/..
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12
Blood ammonia and glutamine as predictors of hyperammonemic..:
Lee, Brendan
;
Diaz, George A.
;
Rhead, William
...
Genetics in Medicine. 17 (2015) 7 - p. 561-568 , 2015
Link:
https://doi.org/10.1038/..
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13
Self-reported treatment-associated symptoms among patients ..:
Nagamani, Sandesh C.S.
;
Diaz, George A.
;
Rhead, William
...
Molecular Genetics and Metabolism. 116 (2015) 1-2 - p. 29-34 , 2015
Link:
https://doi.org/10.1016/..
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14
Mutations in PURA Cause Profound Neonatal Hypotonia, Seizur..:
Lalani, Seema R.
;
Zhang, Jing
;
Schaaf, Christian P.
...
The American Journal of Human Genetics. 95 (2014) 5 - p. 579-583 , 2014
Link:
https://doi.org/10.1016/..
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15
MCPH1 deletion in a newborn with severe microcephaly and pr..:
Pfau, Ruthann B.
;
Thrush, Devon Lamb
;
Hamelberg, Elizabeth
...
European Journal of Medical Genetics. 56 (2013) 11 - p. 609-613 , 2013
Link:
https://doi.org/10.1016/..
1-15