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Select item 40326421.

Towards a safety net for management of 22q11.2 deletion syndrome: guidelines for our times

Alex Habel, Richard Herriot, Dinakantha Kumararatne, Jeremy Allgrove, Kate Baker, Helen Baxendale, Frances Bu’Lock, Helen Firth, Andrew Gennery, Anthony Holland, Claire Illingworth, Nigel Mercer, Merel Pannebakker, Andrew Parry, Anne Roberts, Beverly Tsai-Goodman

Eur J Pediatr. 2014; 173(6): 757–765. Published online 2014 Jan 3. doi: 10.1007/s00431-013-2240-z

PMCID:: PMC4032642

Article PDF–460K

Select item 13366542.

Guidelines for transfusion of erythrocytes to neonates and premature infants. Fetus and Newborn Committee, Canadian Paediatric Society.

CMAJ. 1992 Dec 15; 147(12): 1781–1792.

PMCID:: PMC1336654

Summary Page Browse PDF–2.8M

Select item 110022423.

Case report: Long term response to growth hormone in a child with Silver-Russell syndrome-like phenotype due to a novel paternally inherited IGF2 variant

Silvia Ventresca, Francesca Romana Lepri, Sabrina Criscuolo, Giorgia Bottaro, Antonio Novelli, Sandro Loche, Marco Cappa

Front Endocrinol (Lausanne) 2024; 15: 1364234. Published online 2024 Mar 26. doi: 10.3389/fendo.2024.1364234

PMCID:: PMC11002242

Article PDF–1.3M

Select item 110002354.

Higher Dose Noninvasive Transcutaneous Auricular Vagus Nerve Stimulation Increases Feeding Volumes and White Matter Microstructural Complexity in Open-Label Study of Infants Slated for Gastrostomy Tube

Dorothea D. Jenkins, Hunter G. Moss, Lauren E. Adams, Sally Hunt, Morgan Dancy, Sarah M. Huffman, Daniel Cook, Jens H. Jensen, Philipp Summers, Sean Thompson, Mark S. George, Bashar W. Badran

J Pediatr. Author manuscript; available in PMC 2024 Apr 8.

Published in final edited form as: J Pediatr. 2023 Nov; 262: 113563. Published online 2023 Jun 16. doi: 10.1016/j.jpeds.2023.113563

PMCID:: PMC11000235

Article PDF–1.2M

Select item 109988955.

Consensus reporting guidelines to address gaps in descriptions of ultra-rare genetic conditions

Ali AlMail, Ahmed Jamjoom, Amy Pan, Min Yi Feng, Vann Chau, Alissa M. D’Gama, Katherine Howell, Nicole S. Y. Liang, Amy McTague, Annapurna Poduri, Kimberly Wiltrout, IPCHiP Executive Committee, Anne S. Bassett, John Christodoulou, Lucie Dupuis, Peter Gill, Tess Levy, Paige Siper, Zornitza Stark, Jacob A. S. Vorstman, Catherine Diskin, Natalie Jewitt, Danielle Baribeau, Gregory Costain

NPJ Genom Med. 2024; 9: 27. Published online 2024 Apr 6. doi: 10.1038/s41525-024-00408-w

PMCID:: PMC10998895

Article PDF–823K

Select item 109983176.

Chronic stridor in a toddler after ingestion of a discharged button battery: a case report

Zoe S. Oftring, Doortje M. Mehrtens, Julian Mollin, Eckard Hamelmann, Sebastian Gaus

BMC Pediatr. 2024; 24: 246. Published online 2024 Apr 6. doi: 10.1186/s12887-024-04730-1

PMCID:: PMC10998317

Article PDF–991K

Select item 109872777.

Early Feeding for the Prevention of Neonatal Hypoglycaemia: A Systematic Review and Meta-Analysis

Lily F. Roberts, Jane E. Harding, Caroline A. Crowther, Estelle Watson, Zeke Wang, Luling Lin

Neonatology. 2024 Mar; 121(2): 141–156. Published online 2024 Jan 9. doi: 10.1159/000535503

PMCID:: PMC10987277

Article

Select item 109856918.

婴幼儿先天性喉软化症的诊疗新进展

刘平凡, 林宗通, 沈翎, 杨中婕

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2023 Dec 3; 37(12): 982–985. Chinese. doi: 10.13201/j.issn.2096-7993.2023.12.011

PMCID:: PMC10985691

Article PDF–970K

Select item 109805539.

Meningitis and Bacteremia by Unusual Serotype of Salmonella enterica Strain: A Whole Genome Analysis

Thamer Brek, Gassem A. Gohal, Muhammad Yasir, Esam I. Azhar, Ibrahim A. Al-Zahrani

Interdiscip Perspect Infect Dis. 2024; 2024: 3554734. Published online 2024 Mar 22. doi: 10.1155/2024/3554734

PMCID:: PMC10980553

Article PDF–2.5M

Select item 1097845710.

Mediastinal malignant rhabdoid tumor in an infant: A rare case report

Elham Zarei, Omid Alemohamad, Zahra Rahimi, Ali Manafi Anari, Behzad Haghighi Aski, Nafise Mortazavi, Maryam Sakhaei, Golnaz Gharebaghi, Amir Ghadipasha

Radiol Case Rep. 2024 Jun; 19(6): 2323–2327. Published online 2024 Mar 21. doi: 10.1016/j.radcr.2024.02.070

PMCID:: PMC10978457

Article PDF–1.1M

Select item 1095283311.

Integration of EpiSign, facial phenotyping, and likelihood ratio interpretation of clinical abnormalities in the re‐classification of an ARID1B missense variant

Caitlin Forwood, Katie Ashton, Ying Zhu, Futao Zhang, Kerith‐Rae Dias, Krystle Standen, Carey‐Anne Evans, Louise Carey, Michael Cardamone, Carolyn Shalhoub, Hala Katf, Carlos Riveros, Tzung‐Chien Hsieh, Peter Krawitz, Peter N Robinson, Tracy Dudding‐Byth, Bekim Sadikovic, Jason Pinner, Michael F. Buckley, Tony Roscioli

Am J Med Genet C Semin Med Genet. 2023 Sep; 193(3): e32056. Published online 2023 Aug 31. doi: 10.1002/ajmg.c.32056

PMCID:: PMC10952833

Article PDF–1.9M

Select item 1095148812.

A cross‐sectional study of breastfed infants referred for tongue tie assessment and frenotomy in one Canadian health region

Tiffany A. Lee, Jessica Bishop, Anne Drover, William K. Midodzi, Laurie K. Twells

Pediatr Investig. 2024 Mar; 8(1): 53–60. Published online 2024 Feb 28. doi: 10.1002/ped4.12416

PMCID:: PMC10951488

Article PDF–172K

Select item 1094926213.

Management of acute supraventricular tachycardia in children

Emaan Abbasi, Sakethram Saravu Vijayashankar, Ran D. Goldman

Can Fam Physician. 2023 Dec; 69(12): 839–841. doi: 10.46747/cfp.6912839

Cet article est disponible en français: Can Fam Physician. 2023 Dec; 69(12): 842–844.

PMCID:: PMC10949262

Article PDF–114K

Select item 1094805914.

Extensive parapharyngeal and skull base neuroglial ectopia; a challenge for differential diagnosis and treatment: case report

Giulianno Molina de Melo, Gabrielle do Nascimento Holanda Gonçalves, Ricardo Antenor de Souza e Souza, Danilo Anunciatto Sguillar

Sao Paulo Med J. 2010; 128(5): 302–305. Published online 2010 Sep 2. doi: 10.1590/S1516-31802010000500011

PMCID:: PMC10948059

Article PDF–672K

Select item 1094745815.

Premature birth did not have a pronounced impact on eating behaviour of four‐year‐old children, but some effects were observed in girls

Elisabet Forsum, Eva Flinke

Acta Paediatr. 2022 Dec; 111(12): 2331–2336. Published online 2022 Sep 30. doi: 10.1111/apa.16546

PMCID:: PMC10947458

Article PDF–495K

Select item 1094331916.

Risk of dysphagia in a population of infants born pre-term: characteristic risk factors in a tertiary NICU

Dwi Juliana Dewi, Elvie Zulka Kautzia Rachmawati, Luh Karunia Wahyuni, Wei-Chung Hsu, Susyana Tamin, Rahmanofa Yunizaf, Joedo Prihartono, R. Adhi Teguh Permana Iskandar

J Pediatr (Rio J) 2024 Mar-Apr; 100(2): 169–176. Published online 2023 Oct 14. doi: 10.1016/j.jped.2023.09.004

PMCID:: PMC10943319

Article PDF–426K

Select item 1093703017.

Outcomes, Symptomatology, and Mortality of Children Presenting With Bacterial Meningitis at Allied Hospitals of Rawalpindi Medical University, Pakistan: A Cross-Sectional Study

Muhammad Zarak Khan, Aiman Waheed, Faizan Fazal, Shahrukh Ahmad Khan, Ehsan Ahmad, Sanan Rasheed, Talha Ijaz, Areesha Abid, Saima Ambreen, Bilal Haider Malik

Cureus. 2024 Mar; 16(3): e56107. Published online 2024 Mar 13. doi: 10.7759/cureus.56107

PMCID:: PMC10937030

Article PDF–168K

Select item 1093057018.

New phenotype of severe neonatal episodic laryngospasm due to a missense mutation in SCN4A: A case report and literature review

XI Qiong, YI Lu, ZHOU Wenjuan, CHEN Jia, YANG Zuocheng

Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2021 Dec 28; 46(12): 1430–1436. doi: 10.11817/j.issn.1672-7347.2021.200598

PMCID:: PMC10930570

Article PDF–1.1M

Select item 1093011219.

Developmental trajectories of challenging behaviors reported retrospectively by Japanese parents of adult children with intellectual disabilities

Masahiko Inoue, Yoichi Gomi, Soichiro Matsuda

Int J Dev Disabil. 2024; 70(2): 287–295. Published online 2022 Jun 26. doi: 10.1080/20473869.2022.2087450

PMCID:: PMC10930112

Article PDF–694K

Select item 1092451920.

Zellweger Syndrome: A Case Report

Prajwala Yogi, Chunauti Bahik, Rahul Yadav, Puja Bhattarai, Rakshya Pandey, Sunil Raja Manandar

JNMA J Nepal Med Assoc. 2024 Feb; 62(270): 155–157. Published online 2024 Feb 29. doi: 10.31729/jnma.8467

PMCID:: PMC10924519

Article PDF–553K

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