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Items: 1 to 20 of 753

1.

Novel pathogenic variant in the HRAS gene with lethal outcome and a broad phenotypic spectrum among Polish patients with Costello syndrome.

Pelc M, Ciara E, Jezela-Stanek A, Kugaudo M, Cieślikowska A, Jurkiewicz D, Janeczko M, Chrzanowska K, Krajewska-Walasek M, Skórka A.

Clin Dysmorphol. 2017 Apr;26(2):83-90. doi: 10.1097/MCD.0000000000000165.

PMID:
28027064
2.

Influence of weight at enterostomy reversal on surgical outcomes in infants after emergent neonatal stoma creation.

Talbot LJ, Sinyard RD, Rialon KL, Englum BR, Tracy ET, Rice HE, Adibe OO.

J Pediatr Surg. 2017 Jan;52(1):35-39. doi: 10.1016/j.jpedsurg.2016.10.015. Epub 2016 Oct 25.

PMID:
27916444
3.

Adolescent inhalant abuse leads to other drug use and impaired growth; implications for diagnosis.

Crossin R, Cairney S, Lawrence AJ, Duncan JR.

Aust N Z J Public Health. 2017 Feb;41(1):99-104. doi: 10.1111/1753-6405.12595. Epub 2016 Oct 23.

PMID:
27774705
4.

Concurrent occurrence of an inherited 16p13.11 microduplication and a de novo 19p13.3 microdeletion involving MAP2K2 in a patient with developmental delay, distinctive facial features, and lambdoid synostosis.

Shimojima K, Ondo Y, Matsufuji M, Sano N, Tsuru H, Oyoshi T, Higa N, Tokimura H, Arita K, Yamamoto T.

Eur J Med Genet. 2016 Nov;59(11):559-563. doi: 10.1016/j.ejmg.2016.10.006. Epub 2016 Oct 14.

PMID:
27751966
5.

Discharge with Pancreatic Fistula after Pancreaticoduodenectomy Independently Predicts Hospital Readmission.

Mosquera C, Vohra NA, Fitzgerald TL, Zervos EE.

Am Surg. 2016 Aug;82(8):698-703.

PMID:
27657584
6.

Functional treatment of airway obstruction and feeding problems in infants with Robin sequence.

Buchenau W, Wenzel S, Bacher M, Müller-Hagedorn S, Arand J, Poets CF.

Arch Dis Child Fetal Neonatal Ed. 2017 Mar;102(2):F142-F146. doi: 10.1136/archdischild-2016-311407. Epub 2016 Jul 19.

PMID:
27435577
7.

Practice patterns in supraglottoplasty and perioperative care.

Ramprasad VH, Ryan MA, Farjat AE, Eapen RJ, Raynor EM.

Int J Pediatr Otorhinolaryngol. 2016 Jul;86:118-23. doi: 10.1016/j.ijporl.2016.04.039. Epub 2016 May 3.

PMID:
27260594
8.

Pathologic lesions in children with acquired immunodeficiency syndrome an autopsy study of 11 cases from Mumbai, India.

Lanjewar DN, Bhatia VO, Lanjewar SD.

Indian J Pathol Microbiol. 2016 Apr-Jun;59(2):166-71. doi: 10.4103/0377-4929.182028.

9.

Corticosterone Methyl Oxidase Deficiency Type 1 with Normokalemia in an Infant.

Üstyol A, Atabek ME, Taylor N, Yeung MC, Chan AO.

J Clin Res Pediatr Endocrinol. 2016 Sep 1;8(3):356-9. doi: 10.4274/jcrpe.2824. Epub 2016 Apr 29.

10.

The role, yield and cost of paediatric faecal elastase-1 testing.

Williams N, Moriatis M, Chambers GM, Ooi CY.

Pancreatology. 2016 Jul-Aug;16(4):551-4. doi: 10.1016/j.pan.2016.04.001. Epub 2016 Apr 7.

PMID:
27090584
11.

Analysis of risk factors contributing to morbidity from gastrojejunostomy feeding tubes in children.

Demehri FR, Simha S, Herrman E, Jarboe MD, Geiger JD, Teitelbaum DH, Gadepalli SK.

J Pediatr Surg. 2016 Jun;51(6):1005-9. doi: 10.1016/j.jpedsurg.2016.02.072. Epub 2016 Mar 2.

PMID:
27001458
12.

Noncardiac Challenges in the Cardiac ICU: Feeding, Growth and Gastrointestinal Complications, Anticoagulation, and Analgesia.

Hehir DA, Easley RB, Byrnes J.

World J Pediatr Congenit Heart Surg. 2016 Mar;7(2):199-209. doi: 10.1177/2150135115615847. Review.

PMID:
26957404
13.

Evaluation of growth curves in children after supraglottoplasty.

Neiner J, Gungor A.

Am J Otolaryngol. 2016 Mar-Apr;37(2):128-31. doi: 10.1016/j.amjoto.2015.11.003. Epub 2015 Nov 25.

PMID:
26954867
14.

EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.

Byrne S, Jansen L, U-King-Im JM, Siddiqui A, Lidov HG, Bodi I, Smith L, Mein R, Cullup T, Dionisi-Vici C, Al-Gazali L, Al-Owain M, Bruwer Z, Al Thihli K, El-Garhy R, Flanigan KM, Manickam K, Zmuda E, Banks W, Gershoni-Baruch R, Mandel H, Dagan E, Raas-Rothschild A, Barash H, Filloux F, Creel D, Harris M, Hamosh A, Kölker S, Ebrahimi-Fakhari D, Hoffmann GF, Manchester D, Boyer PJ, Manzur AY, Lourenco CM, Pilz DT, Kamath A, Prabhakar P, Rao VK, Rogers RC, Ryan MM, Brown NJ, McLean CA, Said E, Schara U, Stein A, Sewry C, Travan L, Wijburg FA, Zenker M, Mohammed S, Fanto M, Gautel M, Jungbluth H.

Brain. 2016 Mar;139(Pt 3):765-81. doi: 10.1093/brain/awv393.

15.

Burden of Geriatric Events Among Older Adults Undergoing Major Cancer Surgery.

Tan HJ, Saliba D, Kwan L, Moore AA, Litwin MS.

J Clin Oncol. 2016 Apr 10;34(11):1231-8. doi: 10.1200/JCO.2015.63.4592. Epub 2016 Feb 16.

16.

First molecular diagnosis of Donohue syndrome in Africa: novel unusual insertion/deletion mutation in the INSR gene.

Siala-Sahnoun O, Dhieb D, Ben Thabet A, Hmida N, Belguith N, Fakhfakh F.

Mol Biol Rep. 2016 Mar;43(3):165-73. doi: 10.1007/s11033-016-3951-9. Epub 2016 Feb 13.

PMID:
26874853
17.

Novel myopathy in a newborn with Shwachman-Diamond syndrome and review of neonatal presentation.

Topa A, Tulinius M, Oldfors A, Hedberg-Oldfors C.

Am J Med Genet A. 2016 May;170A(5):1155-64. doi: 10.1002/ajmg.a.37593. Epub 2016 Feb 11.

PMID:
26866830
18.

Risk factors associated with growth failure in the follow-up of very low birth weight newborns.

Rover MM, Viera CS, Silveira RC, Guimarães AT, Grassiolli S.

J Pediatr (Rio J). 2016 May-Jun;92(3):307-13. doi: 10.1016/j.jped.2015.09.006. Epub 2016 Feb 6.

19.

Pycnodysostosis presenting as atypical stridor.

Manfredi L, Marlin S, Fauroux B, Garabedian N, Couloigner V, Leboulanger N.

Eur Ann Otorhinolaryngol Head Neck Dis. 2016 Apr;133(2):87-90. doi: 10.1016/j.anorl.2015.06.005. Epub 2016 Feb 5. Review.

20.

OROFACIAL FINDINGS AND DENTAL MANAGEMENT OF WILLIAMS SYNDROME.

Cogulu D, Hazan F, Dindaroglu FC.

Genet Couns. 2015;26(4):437-42.

PMID:
26852515

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