Results 131 to 140 of about 2,254,317 (172)

Shwachman-diamond syndrome: A case report. [PDF]

Medicine (Baltimore), 2021
Tan H, Su D, Zhuo Z.
europepmc   +1 more source

Shwachman‒Diamond syndrome with initial features mimicking common variable immunodeficiency

Pediatrics and Neonatology, 2021
Jia-Woei Hou
doaj   +1 more source

Pediatrics [PDF]

, 2012
宮脇 利男, 岡部 美恵, 川崎 裕香子, 市田 蕗子, 廣野 恵一, 板澤 寿子, 渡辺 一洋, 種市 尋宙, 足立 陽子, 足立 雄一, 野村 恵子, 金兼 弘和   +11 more
core   +3 more sources

Shwachman-Diamond syndrome: A case report. [PDF]

Medicine (Baltimore)
Liu Z, Tang Q, Chen X, Huang L, Lan L, Lv Z, Yang X, Shan Q.   +7 more
europepmc   +1 more source

Atypical Findings of Shwachman-Diamond Syndrome in Early Infancy: A Diagnostic Challenge. [PDF]

JPGN Rep, 2022
Marsico C, Scozzarella A, Capretti MG, Carfagnini F, Facchini E, Arcuri S, Aceti A.   +6 more
europepmc   +1 more source

Variant Allele Frequency of Pseudogene-Related Variants in Short-read Next-Generation Sequencing Data May Mislead Genetic Diagnosis: A Case of Shwachman-Diamond Syndrome. [PDF]

Ann Lab Med, 2023
Lee H, Lee JA, Lee H, Lee JS, Ko JM, Kim MJ, Seong MW.   +6 more
europepmc   +1 more source

Structural dynamics of the yeast Shwachman-Diamond syndrome protein (Sdo1) on the ribosome and its implication in the 60S subunit maturation [PDF]

core   +1 more source

Expression of Concern: Shwachman-Diamond Syndrome in a Child Presenting With Chronic Diarrhea: A Rare Case in Family Medicine Practice. [PDF]

Cureus, 2022
Alshammari M, Aljohani MA, Hashash JM, Alsaedi HA, Alobaidi WY, Alhuzali NK, Alnumani MS, Alrashidi AH, Al-Battniji SA, Alotaibi NA, Alhumaidi NK, Alajaimi AN, Alqurashi RS, Albishri AT, Alshammari KH.   +14 more
europepmc   +1 more source

Shwachman-Diamond syndrome mimicking mitochondrial hepatopathy. [PDF]

JPGN Rep
Kaufman O, Donnelly C, Cork E, Fiel MI, Chu J, Ganesh J.   +5 more
europepmc   +1 more source