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Select item 103232721.

Narrative Review of Pathophysiology and Endoscopic Management of Basivertebral and Sinuvertebral Neuropathy for Chronic Back Pain

Hyeun Sung Kim, Pang Hung Wu, Il-Tae Jang

J Korean Neurosurg Soc. 2023 Jul; 66(4): 344–355. Published online 2022 Nov 28. doi: 10.3340/jkns.2022.0140

PMCID:: PMC10323272

Abstract Article PDF–1.8M

Select item 89611522.

Ultrasound imaging measures of vertebral bony landmark distances are weakly to moderately correlated with intervertebral disc height as assessed by MRI

Ulrike H Mitchell, A Wayne Johnson, Lauren Adams, Tayva Sonnefeld, Patrick J Owen

BMJ Open Sport Exerc Med. 2022; 8(1): e001292. Published online 2022 Mar 25. doi: 10.1136/bmjsem-2021-001292

PMCID:: PMC8961152

Abstract Article PDF–664K

Select item 87614313.

Novel splicing‐site mutation in DCAF17 gene causing Woodhouse‐Sakati syndrome in a large consanguineous family

Fozia Fozia, Khadim Shah, Rubina Nazli, Sher Alam Khan, Ijaz Ahmad, Noor Mohammad, Saadullah Khan, Amal Alotaibi

J Clin Lab Anal. 2022 Jan; 36(1): e24127. Published online 2021 Dec 8. doi: 10.1002/jcla.24127

PMCID:: PMC8761431

Abstract Article PDF–745K

Select item 74991414.

Internipple Distance and Internipple Index in Prepubertal Turkish Girls

Seda Erişen Karaca, Şengül Cangür, İlknur Arslanoğlu

J Clin Res Pediatr Endocrinol. 2020 Sep; 12(3): 269–274. Published online 2020 Sep 2. doi: 10.4274/jcrpe.galenos.2020.2019.0161

PMCID:: PMC7499141

Abstract Article PDF–267K

Select item 99304155.

Inherited deletion of 9p22.3‐p24.3 and duplication of 18p11.31‐p11.32 associated with neurodevelopmental delay: Phenotypic matching of involved genes

Naser Ajami, Mohammad Amin Kerachian, Mehran Beiraghi Toosi, Farah Ashrafzadeh, Susan Hosseini, Peter N. Robinson, Mohammad Reza Abbaszadegan

J Cell Mol Med. 2023 Feb; 27(4): 496–505. Published online 2023 Jan 24. doi: 10.1111/jcmm.17662

PMCID:: PMC9930415

Abstract Article PDF–1.7M

Select item 91729596.

The Mammillary Bodies: A Review of Causes of Injury in Infants and Children

K.M.E. Meys, L.S. de Vries, F. Groenendaal, S.D. Vann, M.H. Lequin

AJNR Am J Neuroradiol. 2022 Jun; 43(6): 802–812. doi: 10.3174/ajnr.A7463

PMCID:: PMC9172959

Abstract Article PDF–2.0M

Select item 100197257.

Effect of general anesthesia and controlled mechanical ventilation on pulmonary ventilation distribution assessed by electrical impedance tomography in healthy children

Milena S. Nascimento, Celso M. Rebello, Eduardo L. V. Costa, Leticia C. Corrêa, Glasiele C. Alcala, Felipe S. Rossi, Caio C. A. Morais, Eliana Laurenti, Mauro C. Camara, Marcelo Iasi, Maria L. P. Apezzato, Cristiane do Prado, Marcelo B. P. Amato

PLoS One. 2023; 18(3): e0283039. Published online 2023 Mar 16. doi: 10.1371/journal.pone.0283039

PMCID:: PMC10019725

Abstract Article PDF–1.0M

Select item 88588188.

The Application of Awake-Prone Positioning Among Non-intubated Patients With COVID-19-Related ARDS: A Narrative Review

Lingli Chen, Yan Zhang, Yi Li, Chao Song, Fengyu Lin, Pinhua Pan

Front Med (Lausanne) 2022; 9: 817689. Published online 2022 Feb 7. doi: 10.3389/fmed.2022.817689

PMCID:: PMC8858818

Abstract Article PDF–500K

Select item 100906029.

A remarkable assemblage of ticks from mid-Cretaceous Burmese amber

Lidia Chitimia-Dobler, Ben J. Mans, Stephan Handschuh, Jason A. Dunlop

Parasitology. 2022 May; 149(6): 820–830. Published online 2022 Mar 4. doi: 10.1017/S0031182022000269

PMCID:: PMC10090602

Abstract Article PDF–1016K

Select item 963688410.

Mowat-Wilson Syndrome as a Differential Diagnosis in Patients with Congenital Heart Defects and Dysmorphic Facies

Harry Pachajoa, Eidith Gomez-Pineda, Sebastian Giraldo-Ocampo, Juliana Lores

Pharmgenomics Pers Med. 2022; 15: 913–918. Published online 2022 Nov 1. doi: 10.2147/PGPM.S380908

PMCID:: PMC9636884

Abstract Article PDF–434K

Select item 960916411.

The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation

Haowei Du, Angad Jolly, Christopher M. Grochowski, Bo Yuan, Moez Dawood, Shalini N. Jhangiani, He Li, Donna Muzny, Jawid M. Fatih, Zeynep Coban-Akdemir, Mary Esther Carlin, Angela E. Scheuerle, Karin Witzl, Jennifer E. Posey, Matthew Pendleton, Eoghan Harrington, Sissel Juul, P. J. Hastings, Weimin Bi, Richard A. Gibbs, Fritz J. Sedlazeck, James R. Lupski, Claudia M. B. Carvalho, Pengfei Liu

Genome Med. 2022; 14: 122. Published online 2022 Oct 27. doi: 10.1186/s13073-022-01123-w

PMCID:: PMC9609164

Abstract Article PDF–2.2M

Select item 924020512.

Modern Breast Cancer Surgery 1st Central-Eastern European Professional Consensus Statement on Breast Cancer

Zoltán Mátrai, Péter Kelemen, Csaba Kósa, Róbert Maráz, Attila Paszt, Gábor Pavlovics, Ákos Sávolt, Zsolt Simonka, Dezső Tóth, Miklós Kásler, Andrey Kaprin, Petr Krivorotko, Ferenc Vicko, Piotr Pluta, Agnieszka Kolacinska-Wow, Dawid Murawa, Jerzy Jankau, Slawomir Ciesla, Daniel Dyttert, Martin Sabol, Andrii Zhygulin, Artur Avetisyan, Alexander Bessonov, György Lázár

Pathol Oncol Res. 2022; 28: 1610377. Published online 2022 Jun 15. doi: 10.3389/pore.2022.1610377

PMCID:: PMC9240205

Abstract Article PDF–761K

Select item 1074936213.

The emergence of Fanconi anaemia type S: a phenotypic spectrum of biallelic BRCA1 mutations

Tirion Hughes, Anna M. Rose

Front Oncol. 2023; 13: 1278004. Published online 2023 Dec 11. doi: 10.3389/fonc.2023.1278004

PMCID:: PMC10749362

Abstract Article PDF–1.1M

Select item 868035014.

Spondyloocular Syndrome: A Novel XYLT2 Variant with Description of the Neonatal Phenotype

Gabriella Doddato, Alessandra Fabbiani, Chiara Fallerini, Mirella Bruttini, Theodora Hadjistilianou, Martino Landi, Caterina Coradeschi, Salvatore Grosso, Barbara Tomasini, Maria Antonietta Mencarelli, Alessandra Renieri, Francesca Ariani

Front Genet. 2021; 12: 761264. Published online 2021 Dec 3. doi: 10.3389/fgene.2021.761264

Correction in:: Front Genet. 2023; 14: 1143795.

PMCID:: PMC8680350

Abstract Article PDF–1.3M

Select item 781169815.

Lung Ultrasound in the COVID-19 Pandemic

Vito Cianci, Mirko Zanatta

J Cardiovasc Echogr. 2020 Oct; 30(Suppl 2): S6–S10. Published online 2020 Oct 27. doi: 10.4103/jcecho.jcecho_50_20

PMCID:: PMC7811698

Abstract Article

Select item 863714216.

Yanan Zhang, Yuanzhong Deng, Yongyan Jin, Shuang Wang, Xuebing Huang, Kaichao Li, Weiguang Xia, Dong Ruan, Shenglin Wang, Wei Chen, Chuntian Zheng

Poult Sci. 2022 Feb; 101(2): 101573. Published online 2021 Oct 29. doi: 10.1016/j.psj.2021.101573

PMCID:: PMC8637142

Abstract Article PDF–1.7M

Select item 677749617.

Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature

Nadine N. Hauer, Bernt Popp, Leila Taher, Carina Vogl, Perundurai S. Dhandapany, Christian Büttner, Steffen Uebe, Heinrich Sticht, Fulvia Ferrazzi, Arif B. Ekici, Alessandro De Luca, Patrizia Klinger, Cornelia Kraus, Christiane Zweier, Antje Wiesener, Rami Abou Jamra, Erdmute Kunstmann, Anita Rauch, Dagmar Wieczorek, Anna-Marie Jung, Tilman R. Rohrer, Martin Zenker, Helmuth-Guenther Doerr, André Reis, Christian T. Thiel

Eur J Hum Genet. 2019 Jul; 27(7): 1061–1071. Published online 2019 Feb 26. doi: 10.1038/s41431-019-0362-0

PMCID:: PMC6777496

Abstract Article PDF–1.3M

Select item 874168618.

Application of the anatomical fiducials framework to a clinical dataset of patients with Parkinson’s disease

Mohamad Abbass, Greydon Gilmore, Alaa Taha, Ryan Chevalier, Magdalena Jach, Terry M. Peters, Ali R. Khan, Jonathan C. Lau

Brain Struct Funct. 2022; 227(1): 393–405. Published online 2021 Oct 23. doi: 10.1007/s00429-021-02408-3

PMCID:: PMC8741686

Abstract Article PDF–1.6M

Select item 878824819.

A complex DICER1 syndrome phenotype associated with a germline pathogenic variant affecting the RNase IIIa domain of DICER1

Emeli Pontén, Sofia Frisk, Fulya Taylan, Raquel Vaz, Sandra Wessman, Leanne de Kock, Niklas Pal, William D Foulkes, Kristina Lagerstedt-Robinson, Ann Nordgren

J Med Genet. 2022 Feb; 59(2): 141–146. Published online 2020 Nov 18. doi: 10.1136/jmedgenet-2020-107385

PMCID:: PMC8788248

Abstract Article PDF–632K

Select item 701127420.

Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum

Roser Urreizti, Estrella Lopez-Martin, Antonio Martinez-Monseny, Montse Pujadas, Laura Castilla-Vallmanya, Luis Alberto Pérez-Jurado, Mercedes Serrano, Daniel Natera-de Benito, Beatriz Martínez-Delgado, Manuel Posada-de-la-Paz, Javier Alonso, Purificación Marin-Reina, Mar O’Callaghan, Daniel Grinberg, Eva Bermejo-Sánchez, Susanna Balcells

Orphanet J Rare Dis. 2020; 15: 44. Published online 2020 Feb 10. doi: 10.1186/s13023-020-1317-9

PMCID:: PMC7011274

Abstract Article PDF–1.9M

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