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Cullinane, Andrew R.
210  results:
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1

CELSR2, encoding a planar cell polarity protein, is a putat..:

Vilboux, Thierry ; Malicdan, May Christine V. ; Roney, Joseph C....
American Journal of Medical Genetics Part A.  173 (2017)  3 - p. 661-666 , 2017
Link: https://doi.org/10.1002/..
 
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2

Molecular genetic findings and clinical correlations in 100..:

Vilboux, Thierry ; Doherty, Daniel A. ; Glass, Ian A....
Genetics in Medicine.  19 (2017)  8 - p. 875-882 , 2017
Link: https://doi.org/10.1038/..
 
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3

Chediak-Higashi syndrome: Lysosomal trafficking regulator d..:

Gil-Krzewska, Aleksandra ; Wood, Stephanie M. ; Murakami, Yousuke...
Journal of Allergy and Clinical Immunology.  137 (2016)  4 - p. 1165-1177 , 2016
Link: https://doi.org/10.1016/..
 
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4

Natural killer cell activity and dysfunction in Hermansky‐P..:

Gil‐Krzewska, Aleksandra ; Murakami, Yousuke ; Peruzzi, Giovanna...
British Journal of Haematology.  176 (2016)  1 - p. 118-123 , 2016
Link: https://doi.org/10.1111/..
 
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5

Identification of a novel mutation in HPS6 in a patient wit..:

O'Brien, Kevin J. ; Lozier, Jay ; Cullinane, Andrew R....
Molecular Genetics and Metabolism.  119 (2016)  3 - p. 284-287 , 2016
Link: https://doi.org/10.1016/..
 
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6

Neurologic involvement in patients with atypical Chediak-Hi..:

Introne, Wendy J. ; Westbroek, Wendy ; Cullinane, Andrew R....
Neurology.  86 (2016)  14 - p. 1320-1328 , 2016
Link: https://doi.org/10.1212/..
 
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7

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/..
 
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8

York platelet syndrome is a CRAC channelopathy due to gain-..:

Markello, Thomas ; Chen, Dong ; Kwan, Justin Y....
Molecular Genetics and Metabolism.  114 (2015)  3 - p. 474-482 , 2015
Link: https://doi.org/10.1016/..
 
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9

A clinical report of Chediak-Higashi syndrome in infancy wi..:

Singh, Ankur ; Bryan, Melanie M. ; Roney, Joseph C....
International Journal of Dermatology.  55 (2015)  3 - p. 317-321 , 2015
Link: https://doi.org/10.1111/..
 
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10

The BEACH Is Hot: A LYST of Emerging Roles for BEACH‐Domain..:

Cullinane, Andrew R. ; Schäffer, Alejandro A. ; Huizing, Marjan
Traffic.  14 (2013)  7 - p. 749-766 , 2013
Link: https://doi.org/10.1111/..
 
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11

Evidence for defective Rab GTPase-dependent cargo traffic i..:

Krzewski, Konrad ; Cullinane, Andrew R.
Experimental Cell Research.  319 (2013)  15 - p. 2360-2367 , 2013
Link: https://doi.org/10.1016/..
 
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12

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/..
 
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13

A BLOC‐1 mutation screen reveals a novel BLOC1S3 mutation i..:

Cullinane, Andrew R. ; Curry, James A. ; Golas, Gretchen...
Pigment Cell & Melanoma Research.  25 (2012)  5 - p. 584-591 , 2012
Link: https://doi.org/10.1111/..
 
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14

The BLOS1‐Interacting Protein KXD1 is Involved in the Bioge..:

Yang, Qing ; He, Xin ; Yang, Lin...
Traffic.  13 (2012)  8 - p. 1160-1169 , 2012
Link: https://doi.org/10.1111/..
 
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15

Associations among genotype, clinical phenotype, and intrac..:

Smith, Holly ; Galmes, Romain ; Gogolina, Ekaterina...
Human Mutation.  33 (2012)  12 - p. 1656-1664 , 2012
Link: https://doi.org/10.1002/..
 
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