PMC Articles for MedGen (Select 1846394) - PMC

Select item 103432871.

Metalation of a Hierarchical Self-Assembly Consisting of π-Stacked Cubes through Single-Crystal-to-Single-Crystal Transformation

Bin Wang, Zi-Ang Nan, Jin Liu, Zi-Xiu Lu, Wei Wang, Zhu Zhuo, Guo-Ling Li, You-Gui Huang

Molecules. 2023 Jul; 28(13): 4923. Published online 2023 Jun 22. doi: 10.3390/molecules28134923

PMCID:: PMC10343287

Abstract Article PDF–4.8M

Select item 62964362.

Role of mitochondrial cyanide detoxification in Arabidopsis root hair development

Lucía Arenas-Alfonseca, Cecilia Gotor, Luis C. Romero, Irene García

Plant Signal Behav. 2018; 13(12): e1537699. Published online 2018 Oct 31. doi: 10.1080/15592324.2018.1537699

PMCID:: PMC6296436

Abstract Article PDF–703K

Select item 94931073.

Case Report: Association between cyclic neutropenia and SRP54 deficiency

Melinda Erdős, Oksana Boyarchuk, László Maródi

Front Immunol. 2022; 13: 975017. Published online 2022 Sep 8. doi: 10.3389/fimmu.2022.975017

PMCID:: PMC9493107

Abstract Article PDF–1.3M

Select item 72414244.

Family Studies of WHIM Syndrome

David C. Dale, Emily Dick, Merideth Kelley, Vahagn Makaryan, Jim Connelly, Audrey Anna Bolyard

Curr Opin Hematol. Author manuscript; available in PMC 2021 Jan 1.

Published in final edited form as: Curr Opin Hematol. 2020 Jan; 27(1): 11–17. doi: 10.1097/MOH.0000000000000554

PMCID:: PMC7241424

Abstract Article PDF–212K

Select item 56633645.

Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond–like features

Raphael Carapito, Martina Konantz, Catherine Paillard, Zhichao Miao, Angélique Pichot, Magalie S. Leduc, Yaping Yang, Katie L. Bergstrom, Donald H. Mahoney, Deborah L. Shardy, Ghada Alsaleh, Lydie Naegely, Aline Kolmer, Nicodème Paul, Antoine Hanauer, Véronique Rolli, Joëlle S. Müller, Elisa Alghisi, Loïc Sauteur, Cécile Macquin, Aurore Morlon, Consuelo Sebastia Sancho, Patrizia Amati-Bonneau, Vincent Procaccio, Anne-Laure Mosca-Boidron, Nathalie Marle, Naël Osmani, Olivier Lefebvre, Jacky G. Goetz, Sule Unal, Nurten A. Akarsu, Mirjana Radosavljevic, Marie-Pierre Chenard, Fanny Rialland, Audrey Grain, Marie-Christine Béné, Marion Eveillard, Marie Vincent, Julien Guy, Laurence Faivre, Christel Thauvin-Robinet, Julien Thevenon, Kasiani Myers, Mark D. Fleming, Akiko Shimamura, Elodie Bottollier-Lemallaz, Eric Westhof, Claudia Lengerke, Bertrand Isidor, Seiamak Bahram

J Clin Invest. 2017 Nov 1; 127(11): 4090–4103. Published online 2017 Oct 3. doi: 10.1172/JCI92876

PMCID:: PMC5663364

Abstract Article PDF–10M

Select item 40555226.

TCIRG1 associated Congenital Neutropenia

Vahagn Makaryan, Elisabeth A. Rosenthal, Audrey Anna Bolyard, Merideth L. Kelley, Jennifer E. Below, Michael J. Bamshad, Kathryn M. Bofferding, Joshua D. Smith, Kati Buckingham, Laurence A. Boxer, Julia Skokowa, Karl Welte, Deborah A. Nickerson, Gail P. Jarvik, David C. Dale, for the UW Center for Mendelian Genomics

Hum Mutat. Author manuscript; available in PMC 2015 Jul 1.

Published in final edited form as: Hum Mutat. 2014 Jul; 35(7): 824–827. Published online 2014 May 21. doi: 10.1002/humu.22563

PMCID:: PMC4055522

Abstract Article PDF–234K

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