PMC Articles for MedGen (Select 344735) - PMC - NCBI

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Items: 4

Select item 67264621.

A large deletion in the GP9 gene in Cocker Spaniel dogs with Bernard-Soulier syndrome

Fabio Gentilini, Maria Elena Turba, Fiorella Giancola, Roberto Chiocchetti, Chiara Bernardini, Markéta Dajbychova, Vidhya Jagannathan, Michaela Drögemüller, Cord Drögemüller

PLoS One. 2019; 14(9): e0220625. Published online 2019 Sep 4. doi: 10.1371/journal.pone.0220625

PMCID:: PMC6726462

Abstract Article PDF–1.6M

Select item 53839742.

Autosomal recessive inherited bleeding disorders in Pakistan: a cross-sectional study from selected regions

Arshi Naz, Muhammad Younus Jamal, Samina Amanat, Ikram Din ujjan, Akber Najmuddin, Humayun Patel, Fazle Raziq, Nisar Ahmed, Ayisha Imran, Tahir Sultan Shamsi

Orphanet J Rare Dis. 2017; 12: 66. Published online 2017 Apr 7. doi: 10.1186/s13023-017-0620-6

PMCID:: PMC5383974

Abstract Article PDF–681K

Select item 4368783.

Diagnosis of Bernard-Soulier syndrome and Glanzmann's thrombasthenia with a monoclonal assay on whole blood.

R R Montgomery, T J Kunicki, C Taves, D Pidard, M Corcoran

J Clin Invest. 1983 Feb; 71(2): 385–389. doi: 10.1172/JCI110780

PMCID:: PMC436878

Summary Page Browse PDF–969K

Select item 2966854.

Variant Bernard-Soulier syndrome type bolzano. A congenital bleeding disorder due to a structural and functional abnormality of the platelet glycoprotein Ib-IX complex.

L De Marco, M Mazzucato, F Fabris, D De Roia, P Coser, A Girolami, V Vicente, Z M Ruggeri

J Clin Invest. 1990 Jul; 86(1): 25–31. doi: 10.1172/JCI114692

PMCID:: PMC296685

Summary Page Browse PDF–1.5M

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