Publication catalog

Biomedical publications with connected research

Browse 1,060,000 source-attributed publications. Article pages show available bibliographic context, indexed concepts and SPECTER2 related publications where supported by the source and graph. Missing metadata is not invented, and source retraction notices remain visible.

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Publications

Page 8987 of 10600

Detection and genetic characterization of novel infectious bronchitis viruses from recent outbreaks in broiler and layer chicken flocks in southern China, 2021.
Poultry science | 2022-10-01 | PMID 36041395
Yuan Sheng, Cheng Qing, Guo Jinyue and 9 more
Establishment of an induced pluripotent stem cell line (ZJULLi004-A) from a hypertrophic cardiomyopathy patient carrying MYBPC3/c.3764C>A mutation.
Stem cell research | 2022-10-01 | PMID 36041398
Sun Yaxun, Zhou Jingjun, Wang Hongkun and 5 more
Timing of MeCP2 Expression Determines Midbrain Dopamine Neuron Phenotype Specification.
Stem cells (Dayton, Ohio) | 2022-11-29 | PMID 36041430
He Xi-Biao, Guo Fang, Li Kexuan and 2 more
Development of Toxoplasma gondii Chinese I genotype Wh6 Strain in Cat Intestinal Epithelial Cells.
The Korean journal of parasitology | 2022-08-01 | PMID 36041485
Zhao Guihua, Zhang Lixin, Dai Lisha and 7 more
Molecular Detection and Genetic Diversity of Blastocystis in Korean Dogs.
The Korean journal of parasitology | 2022-08-01 | PMID 36041491
Suh Sangsu, Lee Haeseung, Seo Min-Goo and 7 more
qHD5 encodes an AP2 factor that suppresses rice heading by down-regulating Ehd2 expression.
Plant science : an international journal of experimental plant biology | 2022-11-01 | PMID 36041562
Bin Sun, Xue Pao, Wen Xiao-Xia and 14 more
Patients with biallelic GGC repeat expansions in NOTCH2NLC exhibiting a typical neuronal intranuclear inclusion disease phenotype.
Genomics | 2022-09-01 | PMID 36041634
Kameyama Shinichi, Mizuguchi Takeshi, Doi Hiroshi and 15 more
Pathogenic variants detected by RNA sequencing in Cornelia de Lange syndrome.
Genomics | 2022-09-01 | PMID 36041635
Seyama Rie, Uchiyama Yuri, Ceroni José Ricard Magliocco and 19 more
SARS-CoV-2 VOCs, Mutational diversity and clinical outcome: Are they modulating drug efficacy by altered binding strength?
Genomics | 2022-09-01 | PMID 36041637
Saifi Sheeba, Ravi Varsha, Sharma Sparsh and 3 more
Recurrent tandem duplication of UNC13D in familial hemophagocytic lymphohistiocytosis type 3.
Clinical immunology (Orlando, Fla.) | 2022-09-01 | PMID 36041693
Tomomasa Dan, Hiejima Eitaro, Miyamoto Takayuki and 9 more
[GATA2 gene mutations: 3 cases].
La Revue de medecine interne | 2022-11-01 | PMID 36041908
Perrard N, Pokeerbux M R, Quesnel B and 7 more
Mitochondrial DNA is a major source of driver mutations in cancer.
Trends in cancer | 2022-12-01 | PMID 36041967
Kim Minsoo, Mahmood Mahnoor, Reznik Ed and 1 more
Tandem duplication within the DMD gene in Labrador retrievers with a mild clinical phenotype.
Neuromuscular disorders : NMD | 2022-10-01 | PMID 36041985
Shelton G Diane, Minor Katie M, Vieira Natassia M and 6 more
Tea consumption and risk of lower respiratory tract infections: a two-sample mendelian randomization study.
European journal of nutrition | 2023-02-01 | PMID 36042048
Chen Yuting, Shen Jiran, Wu Ye and 7 more
GASP1 enhances malignant phenotypes of breast cancer cells and decreases their response to paclitaxel by forming a vicious cycle with IGF1/IGF1R signaling pathway.
Cell death & disease | 2022-08-30 | PMID 36042202
Liu Zhao, Meng Du, Wang Jianling and 7 more
Association between non-alcoholic fatty liver disease and metabolically healthy deterioration across different body shape phenotypes at baseline and change patterns.
Scientific reports | 2022-08-30 | PMID 36042236
Lei Liu, Changfa Wang, Jiangang Wang and 5 more
Intronic NEFH variant is associated with reduced risk for sporadic ALS and later age of disease onset.
Scientific reports | 2022-08-30 | PMID 36042248
Theunissen Frances, Anderton Ryan S, Mastaglia Frank L and 3 more
Genetic pattern and demographic history of cutlassfish (Trichiurus nanhaiensis) in South China Sea by the influence of Pleistocene climatic oscillations.
Scientific reports | 2022-08-30 | PMID 36042258
Gu Sui, Yan Yun-Rong, Yi Mu-Rong and 5 more
Effects of splenectomy on skin inflammation and psoriasis-like phenotype of imiquimod-treated mice.
Scientific reports | 2022-08-30 | PMID 36042262
Shinno-Hashimoto Hiroyo, Eguchi Akifumi, Sakamoto Akemi and 7 more
The Ntan1 gene is expressed in perineural glia and neurons of adult Drosophila.
Scientific reports | 2022-08-30 | PMID 36042338
Castañeda-Sampedro Ana, Calvin-Cejudo Laura, Martin Fernando and 2 more
Clinical parameter-based prediction of DNA methylation classification generates a prediction model of prognosis in patients with juvenile myelomonocytic leukemia.
Scientific reports | 2022-08-30 | PMID 36042365
Imaizumi Takahiro, Meyer Julia, Wakamatsu Manabu and 11 more
Whole genome sequence analysis of equid gammaherpesvirus -2 field isolates reveals high levels of genomic diversity and recombination.
BMC genomics | 2022-08-30 | PMID 36042397
Onasanya Adepeju E, El-Hage Charles, Diaz-Méndez Andrés and 5 more
A comprehensive comparison of multilocus association methods with summary statistics in genome-wide association studies.
BMC bioinformatics | 2022-08-30 | PMID 36042399
Shao Zhonghe, Wang Ting, Qiao Jiahao and 3 more
Recurrent, non-traumatic, non-exertional rhabdomyolysis after immunologic stimuli in a healthy adolescent female: a case report.
BMC pediatrics | 2022-08-30 | PMID 36042458
Katz Jason, Labilloy Anatalia, Lee Andrew
Biallelic variants in CHST3 cause Spondyloepiphyseal dysplasia with joint dislocations in three Pakistani kindreds.
BMC musculoskeletal disorders | 2022-08-30 | PMID 36042462
Kausar Mehran, Ain Noor Ul, Hayat Farzana and 17 more
Genotyping and pathogenicity of fowl adenovirus isolated from broiler chickens in Egypt.
BMC veterinary research | 2022-08-30 | PMID 36042468
Safwat Marwa M, Sayed Al Shimaa R, Ali Elsayed Marwa F and 1 more
Genomic analysis of single nucleotide polymorphisms in malaria parasite drug targets.
Parasites & vectors | 2022-08-30 | PMID 36042490
Gill Jasmita, Sharma Amit
Genetic evidence for a causal relationship between type 2 diabetes and peripheral artery disease in both Europeans and East Asians.
BMC medicine | 2022-08-31 | PMID 36042491
Xiu Xuehao, Zhang Haoyang, Xue Angli and 5 more
Genetic diversity of porcine reproductive and respiratory syndrome virus and evaluation of three one-step real-time RT-PCR assays in Korea.
BMC veterinary research | 2022-08-30 | PMID 36042510
Shin Go-Eun, Park Ji-Young, Lee Kyoung-Ki and 4 more
A genetic model for central chondrosarcoma evolution correlates with patient outcome.
Genome medicine | 2022-08-30 | PMID 36042521
Cross William, Lyskjær Iben, Lesluyes Tom and 19 more
Neuroimaging in hereditary spastic paraplegias: from qualitative cues to precision biomarkers.
Expert review of molecular diagnostics | 2022-07-01 | PMID 36042576
Mulkerrin Grainne, França Marcondes C, Lope Jasmin and 2 more
Association between the rs4784227-CASC16 polymorphism and the risk of breast cancer: A meta-analysis.
Medicine | 2022-08-26 | PMID 36042591
Xu Wenji, Zhong Yao, Yang Haihui and 3 more
Lip cyanosis as the first symptom of Leigh syndrome associated with mitochondrial complex I deficiency due to a compound heterozygous NDUFS1 mutation: A case report.
Medicine | 2022-08-26 | PMID 36042640
Men Lina, Feng Jinxing, Huang Weimin and 5 more
Case report: Biallelic variants in POLR3B gene lead to 4H leukodystrophy from the study of brother and sister.
Medicine | 2022-08-26 | PMID 36042647
Bai Hengzhou, Li Dingming, Zheng Yi and 1 more
A novel EGFR exon 21 indel mutation in lung adenocarcinoma and response to dacomitinib: A case report.
Medicine | 2022-08-26 | PMID 36042660
Zhou Tao, Xiong Qiang, Hong Chen and 4 more
Noncausal effects of genetic predicted depression and colorectal cancer risk: A Mendelian randomization study.
Medicine | 2022-08-26 | PMID 36042675
Wu E, Ni Jun-Tao, Xie Tian and 1 more
The effect of polymorphisms (M235T and T174M) on the angiotensinogen gene (AGT) in coronary artery disease in the Eastern Asian population: A systematic review and meta-analysis.
Medicine | 2022-08-26 | PMID 36042680
Zhang Qian, Huang Qingning, Wang Xianen and 2 more
Genome-wide CRISPR-Cas9 screen reveals a persistent null-hyphal phenotype that maintains high carotenoid production in Yarrowia lipolytica.
Biotechnology and bioengineering | 2022-12-01 | PMID 36042688
Lupish Brian, Hall Jordan, Schwartz Cory and 3 more
Light emitting diodes improved the metabolism of rosmarinic acid and amino acids at the transcriptional level in two genotypes of Melissa officinalis L.
Functional plant biology : FPB | 2022-11-01 | PMID 36043232
Ahmadi Tayebeh, Shabani Leila, Sabzalian Mohammad R
Genetic variation underlies plastic responses to global change drivers in the purple sea urchin, Strongylocentrotus purpuratus.
Proceedings. Biological sciences | 2022-08-31 | PMID 36043281
Strader Marie E, Wolak Matthew E, Simon Olivia M and 1 more
The antique genetic plight of the Mediterranean monk seal (Monachus monachus).
Proceedings. Biological sciences | 2022-08-31 | PMID 36043283
Salmona Jordi, Dayon Julia, Lecompte Emilie and 15 more
Sparse kernel models provide optimization of training set design for genomic prediction in multiyear wheat breeding data.
The plant genome | 2022-12-01 | PMID 36043341
Lopez-Cruz Marco, Dreisigacker Susanne, Crespo-Herrera Leonardo and 10 more
Memories, museum artefacts and excavations in resolving the history of maternal lineages in the Finnhorse.
Animal genetics | 2022-12-01 | PMID 36043357
Kvist Laura, Honka Johanna, Salazar Daniela and 2 more
Harnessing gene fusion-derived neoantigens for 'cold' breast and prostate tumor immunotherapy.
Immunotherapy | 2022-10-01 | PMID 36043380
Velaga Ravi, Koo Kevin M, Mainwaring Paul N
Detection of relevant pharmacogenetic information through exome sequencing in oncology.
Pharmacogenomics | 2022-09-01 | PMID 36043386
Verdez Simon, Albuisson Juliette, Duffourd Yannis and 10 more
EfGD: the Erianthus fulvus genome database.
Database : the journal of biological databases and curation | 2022-08-31 | PMID 36043401
Qian Zhenfeng, Li Xuzhen, He Lilian and 10 more
Characterization of POR haplotype distribution in African populations and comparison with other global populations.
Pharmacogenomics | 2022-09-01 | PMID 36043428
Booyse Ross P, Twesigomwe David, Hazelhurst Scott
Temporomandibular disorder in construction workers associated with ANKK1 and DRD2 genes.
Brazilian dental journal | 2000-01-01 | PMID 36043564
Baratto Samantha Schaffer Pugsley, Meger Michelle Nascimento, Camargo Vânia and 7 more
Colorectal cancer in patient younger than 50-year-old in Kelantan: Two case reports.
The Malaysian journal of pathology | 2022-08-01 | PMID 36043592
Che Jalil N A, Othman N H, Wan Abdul Rahman W F and 4 more
An insight of -50 (G>A) mutation in the direct repeat element of the β-globin gene: From Malaysian perspective.
The Malaysian journal of pathology | 2022-08-01 | PMID 36043595
Mohd Yasin N, Abdul Hamid F S, Hassan S and 3 more
Characterization of sequence determinants of enhancer function using natural genetic variation.
eLife | 2022-08-31 | PMID 36043696
Yang Marty G, Ling Emi, Cowley Christopher J and 2 more
The Influence of TNF-α, IL-6, TGF-β1, IFN-γ, IL-10 Polymorphisms on Predisposition to Diabetes Mellitus among Jordanian Patients.
Endocrine, metabolic & immune disorders drug targets | 2023-01-01 | PMID 36043733
Khdair Sawsan I, Al-Naimat Ola S, Jarrar Wassan and 2 more
Therapeutic Role of Phytophenol Gallic Acid for the Cure of COVID-19 Pathogenesis.
Endocrine, metabolic & immune disorders drug targets | 2023-01-01 | PMID 36043737
Baraskar Kirti, Thakur Pratibha, Shrivastava Renu and 1 more
Non-ischaemic dilated cardiomyopathy: recognising the genetic links.
Internal medicine journal | 2023-02-01 | PMID 36043846
Paul Caitlin, Peters Stacey, Perrin Mark and 2 more
How To Be a Successful Monopartite Begomovirus in a Bipartite-Dominated World: Emergence and Spread of Tomato Mottle Leaf Curl Virus in Brazil.
Journal of virology | 2022-09-28 | PMID 36043875
Souza Juliana O, Melgarejo Tomás A, Vu Sandra and 6 more
Detection of BRCA1, BRCA2, and ATM Alterations in Matched Tumor Tissue and Circulating Tumor DNA in Patients with Prostate Cancer Screened in PROfound.
Clinical cancer research : an official journal of the American Association for Cancer Research | 2023-01-04 | PMID 36043882
Chi Kim N, Barnicle Alan, Sibilla Caroline and 15 more
When rhinosinusitis is not just rhinosinusitis: Clinical characteristics and phenotypes of patients with type 2 chronic rhinosinusitis with nasal polyps.
Acta bio-medica : Atenei Parmensis | 2022-08-31 | PMID 36043973
La Mantia Ignazio, Ciprandi Giorgio, Varricchio Attilio and 3 more
A prospective multicentric study of risk-reducing salpingo-oophorectomy in BRCA mutation patients.
Acta bio-medica : Atenei Parmensis | 2022-08-31 | PMID 36043985
Loizzi Vera, Cicinelli Ettore, Del Vecchio Vittoria and 10 more
In vivo functional characterization of EGFR variants identifies novel drivers of glioblastoma.
Neuro-oncology | 2023-03-14 | PMID 36044040
Yu Kwanha, Kong Kathleen, Lozzi Brittney and 9 more
Mendelian Susceptibility to Mycobacterial Disease: Retrospective Clinical and Genetic Study in Mexico.
Journal of clinical immunology | 2023-01-01 | PMID 36044171
Peñafiel Vicuña Ana Karen, Yamazaki Nakashimada Marco, León Lara Ximena and 29 more
Combination of ruxolitinib with ABT-737 exhibits synergistic effects in cells carrying concurrent JAK2V617F and ASXL1 mutations.
Investigational new drugs | 2022-12-01 | PMID 36044173
Yuan Jiajia, Song Junzhe, Chen Chao and 4 more
Association of 24-Hour Activity Pattern Phenotypes With Depression Symptoms and Cognitive Performance in Aging.
JAMA psychiatry | 2022-10-01 | PMID 36044201
Smagula Stephen F, Zhang Gehui, Gujral Swathi and 5 more
Subphenotypes of acute kidney injury in children.
Current opinion in critical care | 2022-12-01 | PMID 36044290
Gist Katja M, Fuhrman Dana, Stanski Natalja and 2 more
Composite FOXL2 Mutation-positive Adult Granulosa Cell Tumor and Serous Borderline Tumor of the Ovary.
International journal of gynecological pathology : official journal of the International Society of Gynecological Pathologists | 2023-09-01 | PMID 36044294
Guerrieri Claudio, Hudacko Rachel, Anderson Patrick
Ovarian Microcystic Stromal Tumor With Intraovarian Recurrence and Peritoneal and Omental Spread: A Case Report With Morphological, Immunohistochemical, and Molecular Analysis.
International journal of gynecological pathology : official journal of the International Society of Gynecological Pathologists | 2023-09-01 | PMID 36044304
Donthi Deepak, Chen Hao, Peng Yan and 1 more
Pineal Parenchymal Tumor of Intermediate Differentiation and DICER1 Syndrome: A Case Report.
Journal of pediatric hematology/oncology | 2023-04-01 | PMID 36044309
Gupte Avanti, Sood Sandeep, Kupsky William J and 4 more
Study of variants in genes implicated in rare familial migraine syndromes and their association with migraine in 200,000 exome-sequenced UK Biobank participants.
Annals of human genetics | 2022-11-01 | PMID 36044383
Markel Katherine Alexis, Curtis David
Human genotype-to-phenotype predictions: Boosting accuracy with nonlinear models.
PloS one | 2022-01-01 | PMID 36044406
Medvedev Aleksandr, Mishra Sharma Satyarth, Tsatsorin Evgenii and 2 more
Identifying Modality-Consistent and Modality-Specific Features via Label-Guided Multi-Task Sparse Canonical Correlation Analysis for Neuroimaging Genetics.
IEEE transactions on bio-medical engineering | 2023-03-01 | PMID 36044490
Hao Xiaoke, Tan Qihao, Guo Yingchun and 6 more
AI-based search for convergently expanding, advantageous mutations in SARS-CoV-2 by focusing on oligonucleotide frequencies.
PloS one | 2022-01-01 | PMID 36044525
Ikemura Toshimichi, Iwasaki Yuki, Wada Kennosuke and 2 more
Base editor enables rational genome-scale functional screening for enhanced industrial phenotypes in Corynebacterium glutamicum.
Science advances | 2022-09-02 | PMID 36044571
Liu Ye, Wang Ruoyu, Liu Jiahui and 9 more
Inheritance of somatic mutations by animal offspring.
Science advances | 2022-09-02 | PMID 36044584
Vasquez Kuntz Kate L, Kitchen Sheila A, Conn Trinity L and 6 more
Inhibition Predicts the Course of Depression and Anxiety Symptoms Among Adolescents: The Moderating Role of Familial Risk.
The Journal of nervous and mental disease | 2023-02-01 | PMID 36044650
Stevens Elizabeth S, Funkhouser Carter J, Auerbach Randy P and 5 more
Immune Checkpoint Blockade Outcome in Small-Cell Lung Cancer and Its Relationship With Retinoblastoma Mutation Status and Function.
JCO precision oncology | 2022-08-01 | PMID 36044718
Dowlati Afshin, Abbas Ata, Chan Timothy and 8 more
Generation and characterization of iPSC lines (UOHi003-A, UOHi002-A) from a patient with SHANK3 mutation and her healthy mother.
Stem cell research | 2022-10-01 | PMID 36044808
Nayak Ritu, Rosh Idan, Rabinski Tatiana and 3 more
Arid1a mutation suppresses TGF-β signaling and induces cholangiocarcinoma.
Cell reports | 2022-08-30 | PMID 36044839
Guo Bing, Friedland Scott C, Alexander William and 12 more
Molecular archaeology of human cognitive traits.
Cell reports | 2022-08-30 | PMID 36044840
Kaczanowska Joanna, Ganglberger Florian, Chernomor Olga and 7 more
Quantification of spatial subclonal interactions enhancing the invasive phenotype of pediatric glioma.
Cell reports | 2022-08-30 | PMID 36044867
Tari Haider, Kessler Ketty, Trahearn Nick and 4 more
Self-organization of plasticity and specialization in a primitively social insect.
Cell systems | 2022-09-21 | PMID 36044898
Patalano Solenn, Alsina Adolfo, Gregorio-Rodríguez Carlos and 8 more
Genomes from a medieval mass burial show Ashkenazi-associated hereditary diseases pre-date the 12th century.
Current biology : CB | 2022-10-24 | PMID 36044903
Brace Selina, Diekmann Yoan, Booth Thomas and 7 more
The Genetics and Typical Traits of Thoracic Aortic Aneurysm and Dissection.
Annual review of genomics and human genetics | 2022-08-31 | PMID 36044906
Rodrigues Bento Jotte, Meester Josephina, Luyckx Ilse and 3 more
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.
Annual review of genomics and human genetics | 2022-08-31 | PMID 36044908
Chen Jillian L, Miller David T, Schmidt Laura S and 5 more
Development and Characterization of Synthetic Norovirus RNA for Use in Molecular Detection Methods.
Annals of laboratory medicine | 2023-01-01 | PMID 36045055
Cho Eun-Jung, Cha Younggil, Lee Su Kyung and 8 more
Interaction of polygenic variants specific for abdominal obesity risk with energy metabolism in large Korean cohorts.
Nutrition bulletin | 2022-09-01 | PMID 36045113
Park Sunmin
The shadow of "the Eclipse of Darwinism": the problem of evolutionary mechanisms in Republican China, 1910s-1930s.
Theory in biosciences = Theorie in den Biowissenschaften | 2022-11-01 | PMID 36045213
Cheng Zhixiang
African-specific molecular taxonomy of prostate cancer.
Nature | 2022-09-01 | PMID 36045292
Jaratlerdsiri Weerachai, Jiang Jue, Gong Tingting and 18 more
Different rhizosphere soil microbes are recruited by tomatoes with different fruit color phenotypes.
BMC microbiology | 2022-08-31 | PMID 36045321
Chen Siyu, Sun Yan, Wei Yufei and 2 more
Clinical significance of p53 protein expression and TP53 variation status in colorectal cancer.
BMC cancer | 2022-08-31 | PMID 36045334
Kim Kyoung Min, Ahn Ae-Ri, Park Ho Sung and 6 more
L-carnitine, a friend or foe for cardiovascular disease? A Mendelian randomization study.
BMC medicine | 2022-09-01 | PMID 36045366
Zhao Jie V, Burgess Stephen, Fan Bohan and 1 more
Genome-wide interrogation of structural variation reveals novel African-specific prostate cancer oncogenic drivers.
Genome medicine | 2022-08-31 | PMID 36045381
Gong Tingting, Jaratlerdsiri Weerachai, Jiang Jue and 14 more
Colchicine versus cimetidine: the better choice for Periodic fever, aphthous stomatitis, pharyngitis, adenitis (PFAPA) syndrome prophylaxis, and the role of MEFV gene mutations.
Pediatric rheumatology online journal | 2022-08-31 | PMID 36045426
Raeeskarami Seyed Reza, Sadeghi Payman, Vahedi Mahdieh and 3 more
lncRNA polymorphism affects the prognosis of gastric cancer.
World journal of surgical oncology | 2022-08-31 | PMID 36045445
Lyu Yanping, Yang Shuangfeng, Lyu Xuejie and 9 more
Differential impairment of cerebrospinal fluid synaptic biomarkers in the genetic forms of frontotemporal dementia.
Alzheimer's research & therapy | 2022-08-31 | PMID 36045450
Sogorb-Esteve Aitana, Nilsson Johanna, Swift Imogen J and 35 more
Thrombotic incidents in patients with myelofibrosis suggest to be independent of JAK2 V617f mutational status.
Folia medica | 2022-08-31 | PMID 36045460
Nikolova Dragomira, Radinov Atanas
A rare case of a juvenile polyp of patient with Peutz-Jeghers syndrome, complicated with intussusception of the small intestine.
Folia medica | 2022-08-31 | PMID 36045464
Rycyk Anna, Kasztelan-Szczerbinska Beata, Cichoz-Lach Halina
A novel HLA allele, HLA-B*07:248, detected in a Chinese hematopoietic stem cell donor and platelet donor.
HLA | 2023-01-01 | PMID 36045609
Li Xiao-Feng, Li Min-Xi, Zhang Xu and 2 more
Regulatory variants in a novel distal enhancer regulate the expression of CYP3A4 and CYP3A5.
Clinical and translational science | 2022-11-01 | PMID 36045613
Collins Joseph M, Nworu Adaeze C, Mohammad Somayya J and 9 more
Identification of a novel cuproptosis-related gene signature and integrative analyses in patients with lower-grade gliomas.
Frontiers in immunology | 2022-01-01 | PMID 36045691
Bao Jia-Hao, Lu Wei-Cheng, Duan Hao and 5 more
Vascular Ehlers-Danlos syndrome, an often unrecognized clinical entity: a case report of a novel mutation in the COL3A1 gene.
Croatian medical journal | 2022-08-31 | PMID 36046937
Huljev Frković Sanda, Slišković Ana Marija, Toivonen Mia and 3 more
Hereditary spastic paraparesis presenting as cerebral palsy due to ADD3 variant with mechanistic insight provided by a Drosophila γ-adducin model.
Clinical genetics | 2022-12-01 | PMID 36046955
Sanchez Marco Silvia Beatriz, Buhl Edgar, Firth Rose and 10 more