Novel truncating variant of MN1 penultimate exon identified in a Chinese patient with newly recognized MN1 C‐terminal truncation syndrome: Case report and literature review

International Journal of Developmental Neuroscience ◽

10.1002/jdn.10154 ◽

2021 ◽

Author(s):

Arman Zhao ◽

Dandan Shu ◽

Daxue Zhang ◽

Bin Yang ◽

Liyi Hong ◽

...

Keyword(s):

Case Report ◽

Literature Review ◽

Chinese Patient

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The first case report of Strømme syndrome in a Chinese patient: Expanding the phenotype and literature review

American Journal of Medical Genetics Part A ◽

10.1002/ajmg.a.62646 ◽

2022 ◽

Author(s):

Stephanie Ho ◽

Ho‐Ming Luk ◽

Ivan F. M. Lo

Keyword(s):

Case Report ◽

Literature Review ◽

Chinese Patient ◽

First Case

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A novel missense variant in cathepsin C gene leads to PLS in a Chinese patient: A case report and literature review

Molecular Genetics & Genomic Medicine ◽

10.1002/mgg3.1686 ◽

2021 ◽

Author(s):

Hui Yu ◽

Xun He ◽

Xiangqin Liu ◽

Houbin Zhang ◽

Zhu Shen ◽

...

Keyword(s):

Case Report ◽

Literature Review ◽

Missense Variant ◽

Chinese Patient ◽

Cathepsin C

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Portal venous gas and thrombosis in a Chinese patient with fulminant Crohn’s colitis: A case report with literature review

World Journal of Gastroenterology ◽

10.3748/wjg.v12.i34.5582 ◽

2006 ◽

Vol 12 (34) ◽

pp. 5582 ◽

Cited By ~ 22

Author(s):

Simon Siu-Man Ng

Keyword(s):

Case Report ◽

Literature Review ◽

Chinese Patient ◽

Crohn’S Colitis ◽

Portal Venous Gas ◽

Crohn's Colitis

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First Chinese patient with mental retardation‑40 due to a de novo CHAMP1 frameshift mutation: Case report and literature review

Experimental and Therapeutic Medicine ◽

10.3892/etm.2021.10339 ◽

2021 ◽

Vol 22 (2) ◽

Author(s):

Yan Dong ◽

Xiaoyi Shi ◽

Kaixian Du ◽

Ruijuan Xu ◽

Tianming Jia ◽

...

Keyword(s):

Mental Retardation ◽

Case Report ◽

Literature Review ◽

Frameshift Mutation ◽

De Novo ◽

Chinese Patient

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CHILD Syndrome: Case Report of a Chinese Patient and Literature Review of the NAD[P]H Steroid Dehydrogenase-Like Protein Gene Mutation

Pediatric Dermatology ◽

10.1111/pde.12701 ◽

2015 ◽

Vol 32 (6) ◽

pp. e277-e282 ◽

Cited By ~ 4

Author(s):

Xiang-bin Mi ◽

Miao-xuan Luo ◽

Lin-lang Guo ◽

Tang-de Zhang ◽

Xian-wen Qiu

Keyword(s):

Case Report ◽

Literature Review ◽

Gene Mutation ◽

Protein Gene ◽

Chinese Patient ◽

Child Syndrome ◽

Steroid Dehydrogenase

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The effectiveness of afatinib and osimertinib in a Chinese patient with advanced lung adenocarcinoma harboring a rare triple EGFR mutation (R670W/H835L/L833V): a case report and literature review

OncoTargets and Therapy ◽

10.2147/ott.s167346 ◽

2018 ◽

Vol Volume 11 ◽

pp. 4739-4745 ◽

Cited By ~ 8

Author(s):

Bao-Dong Qin ◽

Xiao-Dong Jiao ◽

Ling-Yan Yuan ◽

Ke Liu ◽

Zhan Wang ◽

...

Keyword(s):

Case Report ◽

Literature Review ◽

Lung Adenocarcinoma ◽

Egfr Mutation ◽

Chinese Patient

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Chinese patient with cerebrotendinous xanthomatosis confirmed by genetic testing: A case report and literature review

World Journal of Clinical Cases ◽

10.12998/wjcc.v8.i21.5446 ◽

2020 ◽

Vol 8 (21) ◽

pp. 5446-5456

Author(s):

Lan-Xiao Cao ◽

Mi Yang ◽

Ying Liu ◽

Wen-Ying Long ◽

Guo-Hua Zhao

Keyword(s):

Case Report ◽

Genetic Testing ◽

Literature Review ◽

Chinese Patient ◽

Cerebrotendinous Xanthomatosis

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Abstract #19: Resolution of Cushing's Disease with Empty Sella Syndrome After Radiation Therapy: Case Report and Literature Review

Endocrine Practice ◽

10.1016/s1530-891x(20)43867-4 ◽

2003 ◽

Vol 9 ◽

pp. 7

Author(s):

Vanessa Rodríguez ◽

Rakesh Patel ◽

Steve Lieberman

Keyword(s):

Radiation Therapy ◽

Case Report ◽

Literature Review ◽

Cushing’S Disease ◽

Empty Sella ◽

Cushing's Disease ◽

Empty Sella Syndrome

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Abstract #284: Re-emergence of Adjunct Therapy With Triiodothyronine in the Treatment of Depression and the Potential for Iatrogenic Hyperthyroidism: A Case Report and Literature Review

Endocrine Practice ◽

10.1016/s1530-891x(20)44037-6 ◽

2006 ◽

Vol 12 ◽

pp. 81

Author(s):

Kara Hoisington ◽

Saleh A. Aldasouqi ◽

Karen Blackman

Keyword(s):

Case Report ◽

Literature Review ◽

Adjunct Therapy ◽

Treatment Of Depression

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Abstract #40: Parathyroid Hormone-Related Peptide and B-Cell Lymphoma: A Case Report and Literature Review

Endocrine Practice ◽

10.1016/s1530-891x(20)43888-1 ◽

2003 ◽

Vol 9 ◽

pp. 16

Author(s):

Rakesh Patel ◽

Stephanie Shaw ◽

Darren Lackan ◽

Randall Urban

Keyword(s):

Case Report ◽

Parathyroid Hormone ◽

Literature Review ◽

B Cell ◽

Cell Lymphoma ◽

B Cell Lymphoma ◽

Related Peptide ◽

Parathyroid Hormone Related Peptide

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