1 |
Previously apparently undescribed autosomal recessive MCA/MR syndrome with light fixation, retinal cone dystrophy, and seizures: the M syndrome.
62
57
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Rauch A...Opitz JM
|
9934988 |
1999 |
2 |
Hyper-immunoglobulin M syndrome caused by a mutation in the promotor for CD40L.
53
62
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Van Hoeyveld E...Bossuyt X
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17244160 |
2007 |
3 |
Hyper immunoglobulin M syndrome due to CD40 deficiency: clinical, molecular, and immunological features.
53
62
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Lougaris V...Plebani A
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15661021 |
2005 |
4 |
Molecular pathology of the X-linked hyper-immunoglobulin M syndrome: detection of wild-type transcripts in a patient with a complex splicing defect of the CD40 ligand.
53
62
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Ameratunga R...Marbrook J
|
8914765 |
1996 |
5 |
CD40 ligand gene defects responsible for X-linked hyper-IgM syndrome.
53
62
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Allen RC...Simoneaux DK
|
7679801 |
1993 |
6 |
Mystery solved after 23 years: M syndrome is PIGT-associated multiple congenital anomalies-hypotonia-seizures syndrome 3.
62
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Nobrega PR...Kok F
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36177944 |
2022 |
7 |
Impact of liver fibrosis score on the incidence of stroke: A cohort study.
62
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Xiong S...Sun Y
|
35789194 |
2022 |
8 |
Flap Endonuclease-Induced Steric Hindrance Change Enables the Construction of Multiplex and Versatile Lateral Flow Strips for DNA Detection.
62
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Ma Y...Zhou G
|
36223239 |
2022 |
9 |
Non-Invasive Liver Fibrosis Scores Are Associated With Contrast-Associated Acute Kidney Injury in Patients Undergoing Elective Percutaneous Coronary Intervention.
62
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He HM...Guo YS
|
35642134 |
2022 |
10 |
Community Supported Agriculture, Human Capital, and Community Health.
62
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Martinez CL...Soto Mas F
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35000406 |
2022 |
11 |
Large differences in carbohydrate degradation and transport potential among lichen fungal symbionts.
62
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Resl P...Spribille T
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35551185 |
2022 |
12 |
[Realist protocol for implementing integrated care pathways in France (waiver 51 LFSS 2018)].
62
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Launois R...Eymere S
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34153238 |
2022 |
13 |
3-M syndrome - a primordial short stature disorder with novel CUL7 mutation in two Indian patients.
62
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Akella RRD
|
34674409 |
2022 |
14 |
Proposed Fatigue Index for the Objective Detection of Muscle Fatigue Using Surface Electromyography and a Double-Step Binary Classifier.
62
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Qassim HM...Ismail LI
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35271046 |
2022 |
15 |
How to Choose the Optimal Surgical Strategy to Predict and Prevent LFSS Following Liver Transplantation?
62
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He D...Jiang L
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36133799 |
2022 |
16 |
Rethinking Liver Fibrosis Staging in Patients with Hepatocellular Carcinoma: New Insights from a Large Two-Center Cohort Study.
62
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Xu W...Liu Y
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35983561 |
2022 |
17 |
Recurrent Fetal Anophthalmia Caused by retinoids acid gene 6 mutations: Correlation between prenatal ultrasonography, magnetic resonance imaging, and pathology.
62
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Chiang CJ...Chang CH
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35181035 |
2022 |
18 |
A novel pathogenic variant p.Asp797Val in IFIH1 in a Japanese boy with overlapping Singleton-Merten syndrome and Aicardi-Goutières syndrome.
62
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Hasegawa K...Tsukahara H
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34453469 |
2022 |
19 |
[Clinical and molecular genetic analysis of a patient with 3-M syndrome].
62
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Huang Y...Ge Y
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34839515 |
2021 |
20 |
Low frequency sound stimulation greatly improved the outcome of a refractory postherpetic neuralgia patient with mood and sleep disorder: a case report.
62
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Wang X...Xiang J
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34763480 |
2021 |
21 |
Establishment of a visualized isothermal nucleic acid amplification method for on-site diagnosis of acute hepatopancreatic necrosis disease in shrimp farm.
62
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Yang X...Gao S
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34041767 |
2021 |
22 |
Analysis of Deformation and Stresses of a Lightweight Floor System (LFS) under Thermal Action.
62
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Karpiesiuk J...Chyzy T
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34640124 |
2021 |
23 |
Impact of liver fibrosis score on prognosis in patients with previous myocardial infarction: A prospective cohort study.
62
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Cao YX...Li JJ
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33389804 |
2021 |
24 |
Liver fibrosis scores and coronary atherosclerosis: novel findings in patients with stable coronary artery disease.
62
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Jin JL...Li JJ
|
33740211 |
2021 |
25 |
Peripheral immune profile of children with Talaromyces marneffei infections: a retrospective analysis of 21 cases.
62
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Zeng Q...Fan H
|
33743629 |
2021 |
26 |
Three M syndrome 2 in two Indian patients.
62
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Jacob P...Girisha KM
|
33135300 |
2021 |
27 |
Liver Fibrosis Scoring Systems as Novel Tools for Predicting Cardiovascular Outcomes in Patients Following Elective Percutaneous Coronary Intervention.
62
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Liu HH...Li JJ
|
33506689 |
2021 |
28 |
A novel activation-induced cytidine deaminase mutation in an adult with hyper-immunoglobulin M syndrome.
62
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Mendoza J...Amornruk N
|
33127529 |
2021 |
29 |
A Novel Strategy for Preventing Posttransplant Large-For-Size Syndrome in Adult Liver Transplant Recipients: A Pilot Study.
62
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Pu X...Jiang L
|
35185367 |
2021 |
30 |
Effect of recombinant human insulin-like growth factor 1 therapy in a child with 3-M syndrome-1 with CUL7 gene mutation.
62
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Yang M...Patni N
|
32924381 |
2020 |
31 |
The Effect of Combined Growth Hormone and a Gonadotropin-Releasing Hormone Agonist Therapy on Height in Korean 3-M Syndrome Siblings.
62
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Lee IK...Kim YM
|
33107243 |
2020 |
32 |
TREC and KREC profiling as a representative of thymus and bone marrow output in patients with various inborn errors of immunity.
62
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Dasouki M...Hawwari A
|
32691468 |
2020 |
33 |
A case of X-linked agammaglobulinemia masquerading X-linked hyper-immunoglobulin M syndrome.
62
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Yousef E
|
32553778 |
2020 |
34 |
Physicochemical properties and shelf-life of low-fat pork sausages wrapped with active film manufactured by sodium alginate and cherry tomato powder.
62
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Qiu ZZ...Chin KB
|
32777907 |
2020 |
35 |
Effectiveness of percutaneous lumbar foraminoplasty in patients with lumbar foraminal spinal stenosis accompanying redundant nerve root syndrome: A retrospective observational study.
62
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Jeong KS...In CB
|
32872041 |
2020 |
36 |
A novel mutation within intron 17 of the CUL7 gene results in appearance of premature termination codon.
62
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Guo L...Liu L
|
32278698 |
2020 |
37 |
Identification of two CUL7 variants in two Chinese families with 3-M syndrome by whole-exome sequencing.
62
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Hu L...Huang S
|
32141654 |
2020 |
38 |
Flow-cytometry as an auxiliary in the diagnosis of primary humoral immunodeficiencies.
62
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Santos-Argumedo L...Moreno-Corona NC
|
32538998 |
2020 |
39 |
Cullin-RING E3 Ubiquitin Ligase 7 in Growth Control and Cancer.
62
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Pan ZQ
|
31898234 |
2020 |
40 |
Evaluation of pulmonary findings in patients with humoral immunodeficiency.
62
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Karali Z...Gultekin SSK
|
32684763 |
2020 |
41 |
A Recombinase Polymerase Amplification and Lateral Flow Strip Combined Method That Detects Salmonella enterica Serotype Typhimurium With No Worry of Primer-Dependent Artifacts.
62
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Wu H...Lu C
|
32655504 |
2020 |
42 |
FATAL cryptococcal meningitis in a child with hyper-immunoglobulin M syndrome, with an emphasis on the agent.
62
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Suzuki SML...Svidzinski T
|
31409527 |
2019 |
43 |
Flow control for lateral flow strips with centrifugal microfluidics.
62
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Kainz DM...Paust N
|
31276132 |
2019 |
44 |
Impaired plasma membrane localization of ubiquitin ligase complex underlies 3-M syndrome development.
62
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Wang P...Xiong Y
|
31343991 |
2019 |
45 |
Modulation of the Streaming Potential and Slip Characteristics in Electrolyte Flow over Liquid-Filled Surfaces.
62
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Fan B...Bandaru PR
|
30990691 |
2019 |
46 |
Clinical outcome of percutaneous lumbar foraminoplasty using a safety-improved device in patients with lumbar foraminal spinal stenosis.
62
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Yoo Y...Sim SE
|
30985699 |
2019 |
47 |
Evaluation of physicochemical and textural properties of myofibrillar protein gels and low-fat model sausage containing various levels of curdlan.
62
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Lee CH...Chin KB
|
30612414 |
2019 |
48 |
3-M Syndrome: A Local Case Report.
62
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HabibUllah H...Bashir S
|
30622233 |
2019 |
49 |
The hyper IgM syndromes: Epidemiology, pathogenesis, clinical manifestations, diagnosis and management.
62
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Yazdani R...Aghamohammadi A
|
30439505 |
2019 |
50 |
Clinical Manifestations, Immunological Characteristics and Genetic Analysis of Patients with Hyper-Immunoglobulin M Syndrome in Iran.
62
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Tafakori Delbari M...Aghamohammadi A
|
31117086 |
2019 |