I agree that this site is using cookies. You can find further informations here.
X
Dorward, Heidi
56  results:
Search for persons X
?
1

cDNA sequencing increases the molecular diagnostic yield in..:

Kuptanon, Chulaluk ; Morimoto, Marie ; Nicoli, Elena-Raluca...
Frontiers in Genetics.  14 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
?
2

Diagnosis of Chediak Higashi disease in a 67‐year old woman:

Yarnell, David S. ; Roney, Joseph C. ; Teixeira, Cláudia...
American Journal of Medical Genetics Part A.  182 (2020)  12 - p. 3007-3013 , 2020
Link: https://doi.org/10.1002/..
 
?
3

In vitro functional correction of Hermansky–Pudlak Syndrome..:

Ikawa, Yasuhiro ; Hess, Richard ; Dorward, Heidi...
Molecular Genetics and Metabolism.  114 (2015)  1 - p. 62-65 , 2015
Link: https://doi.org/10.1016/..
 
?
4

Two novel compound heterozygous mutations in OPA3 in two si..:

Lam, Christina ; Gallo, Linda K. ; Dineen, Richard...
Molecular Genetics and Metabolism Reports.  1 (2014)  - p. 114-123 , 2014
Link: https://doi.org/10.1016/..
 
?
5

Disorders with similar clinical phenotypes reveal underlyin..:

Leoyklang, Petcharat ; Suphapeetiporn, Kanya ; Srichomthong, Chalurmpon...
Human Genetics.  132 (2013)  12 - p. 1383-1393 , 2013
Link: https://doi.org/10.1007/..
 
?
6

Non‐specific accumulation of glycosphingolipids in GNE myop..:

Patzel, Katherine A. ; Yardeni, Tal ; Le Poëc‐Celic, Erell...
Journal of Inherited Metabolic Disease.  37 (2013)  2 - p. 297-308 , 2013
Link: https://doi.org/10.1007/..
 
?
7

NBEAL2 is mutated in gray platelet syndrome and is required..:

Gunay-Aygun, Meral ; Falik-Zaccai, Tzipora C ; Vilboux, Thierry...
Nature Genetics.  43 (2011)  8 - p. 732-734 , 2011
Link: https://doi.org/10.1038/..
 
?
8

Vascular pathology of medial arterial calcifications in NT5..:

Markello, Thomas C. ; Pak, Laura K. ; St. Hilaire, Cynthia...
Molecular Genetics and Metabolism.  103 (2011)  1 - p. 44-50 , 2011
Link: https://doi.org/10.1016/..
 
?
9

Cellular and clinical report of new Griscelli syndrome type..:

Westbroek, Wendy ; Klar, Aharon ; Cullinane, Andrew R....
Pigment Cell & Melanoma Research.  25 (2011)  1 - p. 47-56 , 2011
Link: https://doi.org/10.1111/..
 
?
10

OPA3, mutated in 3-methylglutaconic aciduria type III, enco..:

Huizing, Marjan ; Dorward, Heidi ; Ly, Lien...
Molecular Genetics and Metabolism.  100 (2010)  2 - p. 149-154 , 2010
Link: https://doi.org/10.1016/..
 
?
11

Novel 47.5-kb deletion in RAB27A results in severe Griscell..:

Vincent, Lisa M. ; Gilbert, Fred ; DiPace, Jennifer I....
Molecular Genetics and Metabolism.  101 (2010)  1 - p. 62-65 , 2010
Link: https://doi.org/10.1016/..
 
?
12

Activation of Hormone-sensitive Lipase Requires Two Steps, ..:

Wang, Hong ; Hu, Liping ; Dalen, Knut...
Journal of Biological Chemistry.  284 (2009)  46 - p. 32116-32125 , 2009
Link: https://doi.org/10.1074/..
 
?
13

Intravenous immune globulin in hereditary inclusion body my..:

Sparks, Susan ; Rakocevic, Goran ; Joe, Galen...
BMC Neurology.  7 (2007)  1 - p. , 2007
Link: https://doi.org/10.1186/..
 
?
14

Association of the Hermansky-Pudlak syndrome type-3 protein..:

Helip-Wooley, Amanda ; Westbroek, Wendy ; Dorward, Heidi...
BMC Cell Biology.  6 (2005)  1 - p. , 2005
Link: https://doi.org/10.1186/..
 
?
15

Post-translational Regulation of Adipose Differentiation-re..:

Xu, Guoheng ; Sztalryd, Carole ; Lu, Xinyue...
Journal of Biological Chemistry.  280 (2005)  52 - p. 42841-42847 , 2005
Link: https://doi.org/10.1074/..
 
1-15