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Select item 114845291.

Fibrillin-1 Gene Variant p.Gly1754Ser Associated With Weill-Marchesani Syndrome Type 2: A Case Report

Parag M Tamhankar, Pramila Menon, Shailaja V Mane, Aarthi Muthu Kumar

Cureus. 2024 Sep; 16(9): e69448. Published online 2024 Sep 15. doi: 10.7759/cureus.69448

PMCID:: PMC11484529

Article PDF–1.8M

Select item 114136092.

Negotiating and Treating Lateral Canals: A Report of 7 Cases

Luis Felipe JIMÉNEZ-ROJAS, Liliana Patricia ARTAZA, Vanessa Pandolfi PESSOTTI, Débora Parra SELLERA, Jorge Carlos ALBERDI, Alessandra Cristina BAASCH, Karen BRISSON-SUÁREZ, Flávio Rodrigues Ferreira ALVES, Isabela das Neves RÔÇAS, José Freitas SIQUEIRA, Jr

Eur Endod J. 2024; 9(3): 287–294. Published online 2024 Jun 8. doi: 10.14744/eej.2023.43265

PMCID:: PMC11413609

Article PDF–1.6M

Select item 113603173.

Prenatal diagnosis of recurrent Kagami–Ogata syndrome inherited from a mother affected by Temple syndrome: a case report and literature review

Xueting Yang, Mengmeng Li, Qingwei Qi, Xiya Zhou, Na Hao, Yan Lü, Yulin Jiang

BMC Med Genomics. 2024; 17: 222. Published online 2024 Aug 29. doi: 10.1186/s12920-024-01987-4

PMCID:: PMC11360317

Article PDF–2.4M

Select item 113505304.

Pattern of pareses in 5q-spinal muscular atrophy

Zeljko Uzelac, Beate Schwäble, Johannes Dorst, Angela Rosenbohm, Kurt Wollinsky, Claudia D. Wurster, Janna S. Steinbreier, Albert C. Ludolph

Ther Adv Neurol Disord. 2024; 17: 17562864241263420. Published online 2024 Aug 27. doi: 10.1177/17562864241263420

PMCID:: PMC11350530

Article PDF–1.0M

Select item 113377855.

Process evaluation of an mHealth-based school education program to reduce salt intake scaling up in China (EduSaltS): a mixed methods study using the RE-AIM framework

Haijun Guo, Yuan Li, Li Li, Rong Luo, Lanlan Wang, Guangming Yi, Gang Zhang, Feng J. He, Changqiong Wang, Naibo Wang, Lihuang Li, Tao Mao, Jiajin Lin, Yinghua Li, Puhong Zhang

BMC Public Health. 2024; 24: 2261. Published online 2024 Aug 20. doi: 10.1186/s12889-024-19732-y

PMCID:: PMC11337785

Article PDF–1.1M

Select item 111147486.

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

Article PDF–624K

Select item 110777477.

Novel 14q32.2 paternal deletion encompassing the whole DLK1 gene associated with Temple syndrome

Neus Baena, David Monk, Cinthia Aguilera, Mario F. Fraga, Agustín F. Fernández, Elisabeth Gabau, Raquel Corripio, Nuria Capdevila, Juan Pablo Trujillo, Anna Ruiz, Miriam Guitart

Clin Epigenetics. 2024; 16: 62. Published online 2024 May 7. doi: 10.1186/s13148-024-01652-8

PMCID:: PMC11077747

Article PDF–1.4M

Select item 109090748.

Sanjad-Sakati Syndrome in a 35-day-old Iraqi Infant: A Case Report

Majeed H. Al Ajeli

Oman Med J. 2024 Jan; 39(1): e600. Published online 2024 Jan 31. doi: 10.5001/omj.2024.09

PMCID:: PMC10909074

Article PDF–282K

Select item 109016039.

Hand Reconstruction Using Anterolateral Thigh Free Flap by Terminal Perforator-to-Digital Artery Anastomosis: Retrospective Analysis

Jin Soo Kim, Ho Hyung Lee, Sung Hoon Koh, Dong Chul Lee, Si Young Roh, Kyung Jin Lee

Arch Plast Surg. 2024 Jan; 51(1): 87–93. Published online 2024 Feb 7. doi: 10.1055/a-2161-7419

PMCID:: PMC10901603

Article PDF–3.8M

Select item 1086892110.

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

Article PDF–507K

Select item 1084851411.

Musculoskeletal disorders and discomfort for female surgeons or surgeons with small hand size when using hand-held surgical instruments: a systematic review

Ahmed Basager, Quintin Williams, Rosie Hanneke, Aishwarya Sanaka, Heather M. Weinreich

Syst Rev. 2024; 13: 57. Published online 2024 Feb 7. doi: 10.1186/s13643-024-02462-y

PMCID:: PMC10848514

Article PDF–1.1M

Select item 1072976912.

Case report: Childhood epilepsy and borderline intellectual functioning hiding an AADC deficiency disorder associated with compound heterozygous DDC gene pathogenic variants

Ida Cursio, Sabrina Siliquini, Claudia Carducci, Giovanni Bisello, Mario Mastrangelo, Vincenzo Leuzzi, Mariarita Bertoldi, Carla Marini

Front Neurol. 2023; 14: 1284339. Published online 2023 Dec 5. doi: 10.3389/fneur.2023.1284339

PMCID:: PMC10729769

Article PDF–1.0M

Select item 1066630713.

Evaluation the quality of bag-mask ventilation by E/C, T/E and hook technique (a new proposed technique)

Moloud Balafar, Mahboub Pouraghaei, Seyed Pouya Paknezhad, Saba Nemati Ahmad Abad, Hassan Soleimanpour

BMC Anesthesiol. 2023; 23: 384. Published online 2023 Nov 23. doi: 10.1186/s12871-023-02349-w

Correction in:: BMC Anesthesiol. 2024; 24: 160.

PMCID:: PMC10666307

Article PDF–1.8M

Select item 1065247814.

Correction of symbrachydactyly: a systematic review of surgical options

A. Bartsch, D. Nikkhah, R. Miller, K. Mende, S. E. R. Hovius, A. Kaempfen

Syst Rev. 2023; 12: 218. Published online 2023 Nov 16. doi: 10.1186/s13643-023-02362-7

PMCID:: PMC10652478

Article PDF–1.2M

Select item 1060626315.

The Development of a Communication Tool to Aid Parent-Centered Communication between Parents and Healthcare Professionals: A Quality Improvement Project

Luise V. Marino, Nicole Collaḉo, Sophie Coyne, Megan Leppan, Steve Ridgeway, Tara Bharucha, Colette Cochrane, Catarina Fandinga, Karla Palframan, Leanne Rees, Ahmed Osman, Mark J. Johnson, Anna Hurley-Wallace, Anne-Sophie E. Darlington

Healthcare (Basel) 2023 Oct; 11(20): 2706. Published online 2023 Oct 10. doi: 10.3390/healthcare11202706

PMCID:: PMC10606263

Article PDF–859K

Select item 1060180216.

Autism Spectrum Disorder in Two Unrelated Patients with Homozygous Variants in Either ALG8 or ALG11

Gozde Uzunyayla-Inci, Ertugrul Kiykim, Tanyel Zubarioglu, Gozde Yesil, Cigdem Aktuglu Zeybek

Mol Syndromol. 2023 Oct; 14(5): 428–432. Published online 2023 Apr 21. doi: 10.1159/000530118

PMCID:: PMC10601802

Article PDF–129K

Select item 1034916817.

E-prescription and invisible work in genomics in France

Juliette Froger-Lefebvre, Quentin Lade, Estelle Vallier, Catherine Bourgain

Front Sociol. 2023; 8: 1152364. Published online 2023 Jun 29. doi: 10.3389/fsoc.2023.1152364

PMCID:: PMC10349168

Article PDF–496K

Select item 1034127018.

Contribution of Dynamic and Genetic Tests for Short Stature Diagnosing: A Case Report

Betina Biagetti, Irene Valenzuela, Ariadna Campos-Martorell, Berta Campos, Sara Hernandez, Marina Giralt, Noelia Díaz-Troyano, Emilio Iniesta-Serrano, Diego Yeste, Rafael Simó

Diagnostics (Basel) 2023 Jul; 13(13): 2259. Published online 2023 Jul 4. doi: 10.3390/diagnostics13132259

PMCID:: PMC10341270

Article PDF–1.4M

Select item 1013101019.

Clinical and genetic features of Kenny-Caffey syndrome type 2 with multiple electrolyte disturbances: A case report

Ning Yuan, Lin Lu, Xiao-Ping Xing, Ou Wang, Yue Jiang, Ji Wu, Ming-Hai He, Xiao-Juan Wang, Le-Wei Cao

World J Clin Cases. 2023 Apr 6; 11(10): 2290–2300. Published online 2023 Apr 6. doi: 10.12998/wjcc.v11.i10.2290

PMCID:: PMC10131010

Article PDF–2.2M

Select item 1002462120.

A Neonatal Patient Diagnosed with Chromosome 18p 11.1 Microdeletion Syndrome Presented with Trisomy 18Like Phenotype

Deepa Banker, Bhavdeep Mungala, Zankhana Parekh, Shachi Ganatra, Vimal Maheshwari, Yashica Raj, Utsav Patel, Digant Patel, Kishan Chamar, Vasu Solanki

Case Rep Pediatr. 2023; 2023: 2275582. Published online 2023 Mar 11. doi: 10.1155/2023/2275582