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Items: 1 to 20 of 132

1.
Such small hands: the roles of centrins/caltractins in the centriole and in genome maintenance
Tiago J. Dantas, Owen M. Daly, Ciaran G. Morrison
Cell Mol Life Sci. 2012 Sep; 69(18): 2979–2997. Published online 2012 Mar 30. doi: 10.1007/s00018-012-0961-1
PMCID:
PMC11114748
AbstractArticlePDF–624K
2.
Small hand-designed convolutional neural networks outperform transfer learning in automated cell shape detection in confluent tissues
Louis Combe, Mélina Durande, Hélène Delanoë-Ayari, Olivier Cochet-Escartin
PLoS One. 2023; 18(2): e0281931. Published online 2023 Feb 16. doi: 10.1371/journal.pone.0281931
PMCID:
PMC9934364
AbstractArticlePDF–2.7M
3.
Low-Cost Sensors State Estimation Algorithm for a Small Hand-Launched Solar-Powered UAV
An Guo, Zhou Zhou, Xiaoping Zhu, Fan Bai
Sensors (Basel) 2019 Nov; 19(21): 4627. Published online 2019 Oct 24. doi: 10.3390/s19214627
PMCID:
PMC6864480
AbstractArticlePDF–12M
4.
Big hearts, small hands: a focus group study exploring parental food portion behaviours
Kristina Curtis, Louise Atkins, Katherine Brown
BMC Public Health. 2017; 17: 716. Published online 2017 Sep 18. doi: 10.1186/s12889-017-4711-z
PMCID:
PMC5604285
AbstractArticlePDF–707K
5.
Pattern Differences of Small Hand Muscle Atrophy in Amyotrophic Lateral Sclerosis and Mimic Disorders
Jia Fang, Ming-Sheng Liu, Yu-Zhou Guan, Hua Du, Ben-Hong Li, Bo Cui, Qing-Yun Ding, Li-Ying Cui
Chin Med J (Engl) 2016 Apr 5; 129(7): 792–798. doi: 10.4103/0366-6999.178953
PMCID:
PMC4819298
AbstractArticlePDF–595K
6.
A New Total Wrist Fusion Locking Plate for Patients with Small Hands or with Failed Partial Wrist Fusion: Preliminary Experience
Juan González del Pino
J Wrist Surg. 2014 May; 3(2): 148–153. doi: 10.1055/s-0033-1351657
PMCID:
PMC4026985
AbstractArticlePDF–225K
7.
Responses in small hand muscles from magnetic stimulation of the human brain.
C W Hess, K R Mills, N M Murray
J Physiol. 1987 Jul; 388: 397–419. doi: 10.1113/jphysiol.1987.sp016621
Correction in:
J Physiol. 1990 Nov; 430: 617.
PMCID:
PMC1192555
SummaryPage BrowsePDF–2.6M
8.
New report of two patients with mosaic trisomy 9 presenting unusual features and longer survival
Paulo Ricardo Gazzola Zen, Rafael Fabiano Machado Rosa, Rosana Cardoso Manique Rosa, Carla Graziadio, Giorgio Adriano Paskulin
Sao Paulo Med J. 2011; 129(6): 428–432. Published online 2011 Dec 1. doi: 10.1590/S1516-31802011000600010
PMCID:
PMC10868921
AbstractArticlePDF–507K
9.
A Novel Variant in RAD21 in Cornelia De Lange Syndrome Type 4: Case Report and Bioinformatic Analysis
Alessandro De Falco, Daniele De Brasi, Matteo Della Monica, Claudia Cesario, Stefano Petrocchi, Antonio Novelli, Giuseppe D’Alterio, Achille Iolascon, Mario Capasso, Carmelo Piscopo
Genes (Basel) 2023 Jan; 14(1): 119. Published online 2023 Jan 1. doi: 10.3390/genes14010119
PMCID:
PMC9859063
AbstractArticlePDF–1.7M
10.
Influence of Molecular Classes and Growth Hormone Treatment on Growth and Dysmorphology in Prader-Willi Syndrome: A Multicenter Study
Ranim Mahmoud, Anna Leonenko, Merlin G. Butler, Pamela Flodman, June-Anne Gold, Jennifer L. Miller, Elizabeth Roof, Elisabeth Dykens, Daniel J. Driscoll, Virginia Kimonis
Clin Genet. Author manuscript; available in PMC 2022 Jul 1.
Published in final edited form as: Clin Genet. 2021 Jul; 100(1): 29–39. Published online 2021 Mar 13. doi: 10.1111/cge.13947
PMCID:
PMC8568051
AbstractArticlePDF–167K
11.
Phenotypic spectrum and mechanism analysis of Schaff Yang syndrome: A case report on new mutation of MAGEL2 gene
Yanjie Duan, Lu Liu, Xiujuan Zhang, Xiuyun Jiang, Jin Xu, Qingbo Guan
Medicine (Baltimore) 2021 Jun 18; 100(24): e26309. Published online 2021 Jun 18. doi: 10.1097/MD.0000000000026309
PMCID:
PMC8213290
AbstractArticlePDF–261K
12.
O-Fucosylation of ADAMTSL2 is required for secretion and is impacted by geleophysic dysplasia-causing mutations
Ao Zhang, Steven J. Berardinelli, Christina Leonhard-Melief, Deepika Vasudevan, Ta-Wei Liu, Andrew Taibi, Sharee Giannone, Suneel S. Apte, Bernadette C. Holdener, Robert S. Haltiwanger
J Biol Chem. 2020 Nov 13; 295(46): 15742–15753. Published online 2020 Sep 10. doi: 10.1074/jbc.RA120.014557
PMCID:
PMC7667967
AbstractArticlePDF–1.8M
13.
Novel truncating variant of PPM1D penultimate exon in a Chinese patient with Jansen‐de Vries syndrome
Zhuoguang Li, Caiqi Du, Cai Zhang, Mini Zhang, Yanqin Ying, Yan Liang, Xiaoping Luo
Mol Genet Genomic Med. 2020 Mar; 8(3): e1120. Published online 2020 Jan 8. doi: 10.1002/mgg3.1120
PMCID:
PMC7057113
AbstractArticlePDF–689K
14.
Prader-Willi Syndrome - Clinical Genetics, Diagnosis and Treatment Approaches: An Update
Merlin G. Butler, Jennifer L. Miller, Janice L. Forster
Curr Pediatr Rev. 2019 Nov; 15(4): 207–244. Published online 2019 Nov. doi: 10.2174/1573396315666190716120925
PMCID:
PMC7040524
AbstractArticlePDF–3.0M
15.
Comparison of Leptin Protein Levels in Prader-Willi Syndrome and Control Individuals
Merlin G. Butler, Jason Moore, Andrew Morawiecki, Margery Nicolson
Am J Med Genet. Author manuscript; available in PMC 2019 Oct 3.
Published in final edited form as: Am J Med Genet. 1998 Jan 6; 75(1): 7–12.
PMCID:
PMC6775636
AbstractArticlePDF–582K
16.
Prader-Willi Syndrome: Clinical Genetics and Diagnostic Aspects with Treatment Approaches
Merlin G. Butler, Ann M. Manzardo, Janice L. Forster
Curr Pediatr Rev. Author manuscript; available in PMC 2019 Sep 12.
Published in final edited form as: Curr Pediatr Rev. 2016; 12(2): 136–166. doi: 10.2174/1573396312666151123115250
PMCID:
PMC6742515
AbstractArticlePDF–351K
17.
Prader-Willi syndrome and atypical submicroscopic 15q11-q13 deletions with or without imprinting defects
Maaz Hassan, Merlin G. Butler
Eur J Med Genet. Author manuscript; available in PMC 2019 Aug 9.
Published in final edited form as: Eur J Med Genet. 2016 Nov; 59(11): 584–589. Published online 2016 Sep 19. doi: 10.1016/j.ejmg.2016.09.017
PMCID:
PMC6688621
AbstractArticlePDF–499K
18.
Possibility of early diagnosis in a fetus affected by Prader-Willi syndrome with maternal hetero-UPD15: A lesson to be learned
Yanling Dong, Shu Liu, Junnan Li, Jian Li, Qian Chen, Jianyun Luo, Chunlei Li, Huifan Li, Hongbo Qi, Rong Li
Mol Med Rep. 2019 Jul; 20(1): 95–102. Published online 2019 May 15. doi: 10.3892/mmr.2019.10246
PMCID:
PMC6580037
AbstractArticlePDF–664K
19.
A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies
Kevin C.J. Nixon, Justine Rousseau, Max H. Stone, Mohammed Sarikahya, Sophie Ehresmann, Seiji Mizuno, Naomichi Matsumoto, Noriko Miyake, DDD Study, Diana Baralle, Shane McKee, Kosuke Izumi, Alyssa L. Ritter, Solveig Heide, Delphine Héron, Christel Depienne, Hannah Titheradge, Jamie M. Kramer, Philippe M. Campeau
Am J Hum Genet. 2019 Apr 4; 104(4): 596–610. Published online 2019 Mar 14. doi: 10.1016/j.ajhg.2019.02.001
PMCID:
PMC6451697
AbstractArticlePDF–2.0M
20.
Antimicrobial resistance prediction and phylogenetic analysis of Neisseria gonorrhoeae isolates using the Oxford Nanopore MinION sequencer
Daniel Golparian, Valentina Donà, Leonor Sánchez-Busó, Sunniva Foerster, Simon Harris, Andrea Endimiani, Nicola Low, Magnus Unemo
Sci Rep. 2018; 8: 17596. Published online 2018 Dec 4. doi: 10.1038/s41598-018-35750-4
PMCID:
PMC6279828
AbstractArticlePDF–1.6M

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