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Select item 109358641.

Analysis of disease characteristics of a large patient cohort with congenital generalized lipodystrophy from the Middle East and North Africa

Saif Al Yaarubi, Afaf Alsagheir, Azza Al Shidhani, Somaya Alzelaye, Nadia Alghazir, Imad Brema, Hussain Alsaffar, Mohammed Al Dubayee, Awad Alshahrani, Yasmine Abdelmeguid, Omneya M. Omar, Najya Attia, Elham Al Amiri, Jamal Al Jubeh, Albandari Algethami, Haya Alkhayyat, Azad Haleem, Mouza Al Yahyaei, Ines Khochtali, Saleha Babli, Ahmed Nugud, Nandu Thalange, Sarah Albalushi, Nadia Hergli, Asma Deeb, Majid Alfadhel

Orphanet J Rare Dis. 2024; 19: 118. Published online 2024 Mar 13. doi: 10.1186/s13023-024-03084-2

PMCID:: PMC10935864

Article PDF–837K

Select item 101249022.

Phosphatase regulatory subunit MYPT2 knockout partially compensates for the cardiac dysfunction in mice caused by lack of myosin light chain kinase 3

Tingfei Hu, Hema Kalyanaraman, Renate B. Pilz, Darren E. Casteel

J Biol Chem. 2023 Apr; 299(4): 104584. Published online 2023 Mar 7. doi: 10.1016/j.jbc.2023.104584

PMCID:: PMC10124902

Article PDF–1.7M

Select item 99797343.

Abnormalities by Multicolor Flow Cytometry for Detection of Minimal Residual Disease in Recipients of Allo-HSCT Originating from Donors: A Cohort Study

Hui Wang, Aixian Wang, Man Chen, Meiwei Gong, Xueying Wu, Junyi Zhen, Yue Lu

Turk J Haematol. 2023 Mar; 40(1): 18–27. Published online 2023 Feb 28. doi: 10.4274/tjh.galenos.2022.2022.0365

PMCID:: PMC9979734

Article PDF–3.7M

Select item 97751184.

Genetic Stability Assessment of Six Cryopreserved Strawberry (Fragaria × ananassa Duch.) Accessions by Phenotypic and Molecular Studies

Jinjoo Bae, Yunseo Choi, Jae-Young Song, Jung-Ro Lee, Munsup Yoon, Young-Yi Lee

Biology (Basel) 2022 Dec; 11(12): 1746. Published online 2022 Nov 30. doi: 10.3390/biology11121746

PMCID:: PMC9775118

Article PDF–2.2M

Select item 93421395.

Efficacy and toxicity of the DPCPX nanoconjugate drug study for the treatment of spinal cord injury in rats

Xiaohua Gao, Md. Musfizur Hassan, Samiran Ghosh, Guangzhao Mao, Abdulghani Sankari

J Appl Physiol (1985) 2022 Aug 1; 133(2): 262–272. Published online 2022 Jun 30. doi: 10.1152/japplphysiol.00195.2022

PMCID:: PMC9342139

Article

Select item 88286076.

Porencephaly with an optic organ abnormality in a beagle dog

Osamu Hashiguchi, Yuko Yamaguchi, Shinichiro Ikezaki, Tsubasa Saito, Saori Igura, Ryo Hirai, Naomi Horiuchi, Kazutoshi Tamura

J Toxicol Pathol. 2022 Jan; 35(1): 107–111. Published online 2021 Oct 25. doi: 10.1293/tox.2021-0039

PMCID:: PMC8828607

Article PDF–2.6M

Select item 87817137.

LRG1: an emerging player in disease pathogenesis

Carlotta Camilli, Alexandra E. Hoeh, Giulia De Rossi, Stephen E. Moss, John Greenwood

J Biomed Sci. 2022; 29: 6. Published online 2022 Jan 21. doi: 10.1186/s12929-022-00790-6

PMCID:: PMC8781713

Article PDF–5.6M

Select item 82611018.

Prenatal diagnosis of de novo small supernumerary marker chromosome 4q (4q11-q12): A case report

Reza Mohammadi, Raheleh Taheri, Fatemeh Shahriyari, Farnaz Feiz, Zahra Mohammadi, Sadegh Shirian, Reza Raoofian, Abdorrasoul Malekpour, Reza Pazhoomand

Int J Reprod Biomed. 2021 May; 19(5): 477–482. Published online 2021 Jun 23. doi: 10.18502/ijrm.v19i5.9258

PMCID:: PMC8261101

Article PDF–1.1M

Select item 81351349.

Clinical application of whole-exome sequencing: A retrospective, single-center study

Qiang Zhang, Zailong Qin, Shang Yi, Hao Wei, Xun Zhao Zhou, Jiasun Su

Exp Ther Med. 2021 Jul; 22(1): 753. Published online 2021 May 12. doi: 10.3892/etm.2021.10185

PMCID:: PMC8135134

Article PDF–532K

Select item 736080710.

Balanced Genome Triplication in Wheat Causes Premature Growth Arrest and an Upheaval of Genome-Wide Gene Regulation

Xiaowan Gou, Ruili Lv, Changyi Wang, Tiansi Fu, Yan Sha, Lei Gong, Huakun Zhang, Bao Liu

Front Genet. 2020; 11: 687. Published online 2020 Jul 8. doi: 10.3389/fgene.2020.00687

PMCID:: PMC7360807

Article PDF–1.5M

Select item 729525411.

A Rare Case Report of Sirenomelia Following Intracytoplasmic Sperm Injection Embryo Transfer

Kamala Selvaraj, Priya Selvaraj, S. Sivapriya, Vijaya Annigeri, V Suganthi

J Hum Reprod Sci. 2020 Jan-Mar; 13(1): 71–74. Published online 2020 Apr 7. doi: 10.4103/jhrs.JHRS_128_19

PMCID:: PMC7295254

Article PDF–1.3M

Select item 694969612.

Compound heterozygous GNPTAB mutations cause mucolipidosis II or III alpha/beta in two Chinese families

Fang Yu, Jie-Yuan Jin, Ji-Qiang He, Liang-Liang Fan, Zi-Jun Jiao, Pan-Feng Wu, Ju-Yu Tang, Rong Xiang

Int J Clin Exp Pathol. 2019; 12(8): 2981–2988. Published online 2019 Aug 1.

PMCID:: PMC6949696

Article PDF–1.0M

Select item 691943713.

Prenatal diagnosis of a 5q35.3 microduplication involving part of the ADAMTS2 locus: a likely benign variant without apparent phenotypic abnormality: Case series

Fagui Yue, Yang Yu, Qi Xi, Hongguo Zhang, Yuting Jiang, Shibo Li, Ruizhi Liu, Ruixue Wang

Medicine (Baltimore) 2019 Dec; 98(49): e18258. Published online 2019 Dec 10. doi: 10.1097/MD.0000000000018258

PMCID:: PMC6919437

Article PDF–341K

Select item 676029814.

Comorbidities and Survival in Patients With Lipodystrophy: An International Chart Review Study

Baris Akinci, Elif A Oral, Adam Neidert, Diana Rus, Wendy Y Cheng, Philippe Thompson-Leduc, Hoi Ching Cheung, Pamela Bradt, Maria Cristina Foss de Freitas, Renan Magalhães Montenegro, Jr., Virgínia Oliveira Fernandes, Elaine Cochran, Rebecca J Brown

J Clin Endocrinol Metab. 2019 Nov; 104(11): 5120–5135. Published online 2019 Jul 17. doi: 10.1210/jc.2018-02730

PMCID:: PMC6760298

Article

Select item 673432915.

GhFAD2–3 is required for anther development in Gossypium hirsutum

Feng Liu, Lihong Ma, Youwu Wang, Yanjun Li, Xinyu Zhang, Fei Xue, Xinhui Nie, Qianhao Zhu, Jie Sun

BMC Plant Biol. 2019; 19: 393. Published online 2019 Sep 10. doi: 10.1186/s12870-019-2010-9

PMCID:: PMC6734329

Article PDF–4.4M

Select item 672198616.

Phenotype and Adverse Quality of Life in Boys with Klinefelter Syndrome

Sharron Close, Ilene Fennoy, Arlene Smaldone, Nancy Reame

J Pediatr. Author manuscript; available in PMC 2019 Sep 4.

Published in final edited form as: J Pediatr. 2015 Sep; 167(3): 650–657. Published online 2015 Jul 21. doi: 10.1016/j.jpeds.2015.06.037

PMCID:: PMC6721986

Article PDF–354K

Select item 650530917.

An extracted tetraploid wheat harbouring the BBAA component of common wheat shows anomalous shikimate and sucrose metabolism

Ruili Lv, Lei Han, Binbin Xiao, Chaoxia Xiao, Zongze Yang, Hao Wang, Huan Wang, Bao Liu, Chunwu Yang

BMC Plant Biol. 2019; 19: 188. Published online 2019 May 7. doi: 10.1186/s12870-019-1796-9

PMCID:: PMC6505309

Article PDF–3.0M

Select item 607698518.

HPO2GO: prediction of human phenotype ontology term associations for proteins using cross ontology annotation co-occurrences

Tunca Doğan

PeerJ. 2018; 6: e5298. Published online 2018 Aug 2. doi: 10.7717/peerj.5298

PMCID:: PMC6076985

Article PDF–2.3M

Select item 603693219.

C7 vertebra homeotic transformation in domestic dogs – are Pug dogs breaking mammalian evolutionary constraints?

J. Brocal, S. De Decker, R. José‐López, E. G. Manzanilla, J. Penderis, C. Stalin, S. Bertram, J. J. Schoenebeck, C. Rusbridge, N. Fitzpatrick, R. Gutierrez‐Quintana

J Anat. 2018 Aug; 233(2): 255–265. Published online 2018 May 14. doi: 10.1111/joa.12822

PMCID:: PMC6036932

Article PDF–1.0M

Select item 573315220.

Study of Incidence of Gross Urogenital Lesions and Abnormalities on Does Slaughtered at Nyagatare Slaughterhouse, Eastern Province, Rwanda

Borden Mushonga, Sylvine Twiyizeyimna, Gervais Habarugira, Erick Kandiwa, Simbarashe Chinyoka, Alaster Samkange, Alec Bishi

J Vet Med. 2017; 2017: 7564019. Published online 2017 Dec 3. doi: 10.1155/2017/7564019

PMCID:: PMC5733152

Article PDF–944K

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