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 8700 of 10600

Study of patient characteristics, treatment patterns, EGFR testing patterns and outcomes in real-world patients with EGFRm+ non-small cell lung cancer.
Current medical research and opinion | 2022-01-01 | PMID 34544302
Winfree Katherine B, Sheffield Kristin M, Cui Zhanglin Lin and 2 more
Abnormal anther development leads to lower spikelet fertility in rice (Oryza sativa L.) under high temperature during the panicle initiation stage.
BMC plant biology | 2021-09-20 | PMID 34544370
Hu Qiuqian, Wang Wencheng, Lu Qifan and 3 more
Rare novel LPL mutations are associated with neonatal onset lipoprotein lipase (LPL) deficiency in two cases.
BMC pediatrics | 2021-09-20 | PMID 34544385
Wu Yun Qin, Hu Yue Yuan, Li Gui Nan
Waardenburg syndrome type 2A in a large Iranian family with a novel MITF gene mutation.
BMC medical genomics | 2021-09-20 | PMID 34544414
Zardadi Safoura, Rayat Sima, Hassani Doabsari Maryam and 2 more
LightGBM: accelerated genomically designed crop breeding through ensemble learning.
Genome biology | 2021-09-20 | PMID 34544450
Yan Jun, Xu Yuetong, Cheng Qian and 6 more
Phenotype, genotype and long-term prognosis of 40 Chinese patients with isobutyryl-CoA dehydrogenase deficiency and a review of variant spectra in ACAD8.
Orphanet journal of rare diseases | 2021-09-20 | PMID 34544473
Feng Junqi, Yang Chenxi, Zhu Ling and 7 more
Reevaluating the prognostic role of BRAF mutation in colorectal cancer liver metastases.
American journal of surgery | 2022-05-01 | PMID 34544580
Pikouli Anastasia, Papaconstantinou Dimitrios, Wang Jane and 5 more
Enrichment of rare variants in E3 ubiquitin ligase genes in Early onset Parkinson's disease.
Neurobiology of aging | 2022-01-01 | PMID 34544586
Gu Xiaojing, Hou Yanbing, Chen Yongping and 9 more
Molecular Risk Stratification is Independent of EGFR Mutation Status in Identifying Early-Stage Non-Squamous Non-Small Cell Lung Cancer Patients at Risk for Recurrence and Likely to Benefit From Adjuvant Chemotherapy.
Clinical lung cancer | 2021-11-01 | PMID 34544620
Woodard Gavitt A, Kratz Johannes R, Haro Greg and 5 more
Epidermal growth factor receptor (EGFR) mutation testing is useful for primary lung cancer diagnosis and appropriate surgical resection: A case series.
Respiratory investigation | 2022-01-01 | PMID 34544656
Kitamura Atsushi, Ishii Kenji, Okafuji Kouhei and 2 more
Myelodysplastic Syndromes: A New Decade.
Clinical lymphoma, myeloma & leukemia | 2022-01-01 | PMID 34544674
Volpe Virginia O, Garcia-Manero Guillermo, Komrokji Rami S
Elevated N-Linked Glycosylation of IgG V Regions in Myasthenia Gravis Disease Subtypes.
Journal of immunology (Baltimore, Md. : 1950) | 2021-10-15 | PMID 34544801
Mandel-Brehm Caleigh, Fichtner Miriam L, Jiang Ruoyi and 10 more
CNS Hypomyelination Disrupts Axonal Conduction and Behavior in Larval Zebrafish.
The Journal of neuroscience : the official journal of the Society for Neuroscience | 2021-11-03 | PMID 34544838
Madden M E, Suminaite D, Ortiz E and 6 more
Role of genetics in amyotrophic lateral sclerosis: a large cohort study in Chinese mainland population.
Journal of medical genetics | 2022-09-01 | PMID 34544842
Chen Yong-Ping, Yu Shi-Hui, Wei Qian-Qian and 35 more
Extracellular matrix protein N-glycosylation mediates immune self-tolerance in Drosophila melanogaster.
Proceedings of the National Academy of Sciences of the United States of America | 2021-09-28 | PMID 34544850
Mortimer Nathan T, Fischer Mary L, Waring Ashley L and 11 more
Juvenile hormone signaling promotes ovulation and maintains egg shape by inducing expression of extracellular matrix genes.
Proceedings of the National Academy of Sciences of the United States of America | 2021-09-28 | PMID 34544864
Luo Wei, Liu Suning, Zhang Wenqiang and 8 more
Thyroid hormone receptor phosphorylation regulates acute fasting-induced suppression of the hypothalamic-pituitary-thyroid axis.
Proceedings of the National Academy of Sciences of the United States of America | 2021-09-28 | PMID 34544870
Minakhina Svetlana, De Oliveira Vanessa, Kim Sun Young and 2 more
GAMUT: A genomics big data management tool.
Journal of biosciences | 2021-01-01 | PMID 34544908
Ramakrishnan E P, Gupta Saurabh, Gadhari Renu and 5 more
A case of central diabetes insipidus due to neurophysin II gene abnormality diagnosed based on a family history of nocturnal enuresis.
Endocrine journal | 2022-01-28 | PMID 34544934
Sugawara Lucia, Nakamura Takaaki, Ishizuka Yoshitaka and 1 more
Bovine leukemia virus genotype surveillance in cattle at a slaughterhouse in Aichi Prefecture, Japan, in 2019 using polymerase chain reaction combined with restriction fragment length polymorphism.
The Journal of veterinary medical science | 2021-11-16 | PMID 34544937
Sahashi Yuma, Oshima Masaaki, Yamagishi Junjiro and 3 more
Association of SLC22A1 rs622342 and ATM rs11212617 polymorphisms with metformin efficacy in patients with type 2 diabetes.
Pharmacogenetics and genomics | 2022-02-01 | PMID 34545025
Chen Peixian, Cao Yumin, Guo Yali and 7 more
Human genetic basis of coronavirus disease 2019.
Signal transduction and targeted therapy | 2021-09-20 | PMID 34545062
Deng Hao, Yan Xue, Yuan Lamei
LncRNA PCBP1-AS1-mediated AR/AR-V7 deubiquitination enhances prostate cancer enzalutamide resistance.
Cell death & disease | 2021-09-20 | PMID 34545063
Zhang Boya, Zhang Mingpeng, Shen Chunyi and 4 more
Targeting the Lnc-OPHN1-5/androgen receptor/hnRNPA1 complex increases Enzalutamide sensitivity to better suppress prostate cancer progression.
Cell death & disease | 2021-09-20 | PMID 34545067
Zhang Meng, Sun Yin, Huang Chi-Ping and 5 more
Unwinding of a DNA replication fork by a hexameric viral helicase.
Nature communications | 2021-09-20 | PMID 34545080
Javed Abid, Major Balazs, Stead Jonathan A and 2 more
Profilin and Mical combine to impair F-actin assembly and promote disassembly and remodeling.
Nature communications | 2021-09-20 | PMID 34545088
Grintsevich Elena E, Ahmed Giasuddin, Ginosyan Anush A and 4 more
Identification of limb-specific Lmx1b auto-regulatory modules with Nail-patella syndrome pathogenicity.
Nature communications | 2021-09-20 | PMID 34545091
Haro Endika, Petit Florence, Pira Charmaine U and 13 more
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines.
Nature communications | 2021-09-20 | PMID 34545092
Kuseyri Hübschmann Oya, Horvath Gabriella, Cortès-Saladelafont Elisenda and 28 more
Profiling the inhibitory receptors LAG-3, TIM-3, and TIGIT in renal cell carcinoma reveals malignancy.
Nature communications | 2021-09-20 | PMID 34545095
Takamatsu Kimiharu, Tanaka Nobuyuki, Hakozaki Kyohei and 21 more
Development and validation of diagnostic SNP markers for quality control genotyping in a collection of four rice (Oryza) species.
Scientific reports | 2021-09-20 | PMID 34545105
Gouda Arnaud Comlan, Warburton Marilyn L, Djedatin Gustave L and 4 more
Heart failure clinical care analysis uncovers risk reduction opportunities for preserved ejection fraction subtype.
Scientific reports | 2021-09-20 | PMID 34545125
Levinson Rebecca T, Vaitinidin Nataraja Sarma, Farber-Eger Eric and 4 more
The rs9340799 polymorphism of the estrogen receptor alpha (ESR1) gene and its association with breast cancer susceptibility.
Scientific reports | 2021-09-20 | PMID 34545128
Tan Shing Cheng, Low Teck Yew, Mohamad Hanif Ezanee Azlina and 3 more
Body and wing size, but not wing shape, vary along a large-scale latitudinal gradient in a damselfly.
Scientific reports | 2021-09-20 | PMID 34545136
Outomuro David, Golab Maria J, Johansson Frank and 1 more
Effects of apolipoprotein E isoform, sex, and diet on insulin BBB pharmacokinetics in mice.
Scientific reports | 2021-09-20 | PMID 34545146
Rhea Elizabeth M, Hansen Kim, Pemberton Sarah and 4 more
Reproducibility in the UK biobank of genome-wide significant signals discovered in earlier genome-wide association studies.
Scientific reports | 2021-09-20 | PMID 34545148
O'Sullivan Jack W, Ioannidis John P A
Paired comparisons of mutational profiles before and after brachytherapy in asian uveal melanoma patients.
Scientific reports | 2021-09-20 | PMID 34545149
Lee Woo Seung, Lee Junwon, Choi Jun Jeong and 3 more
Mutation Screening and Functional Study of SLC26A4 in Chinese Patients with Congenital Hypothyroidism
Journal of clinical research in pediatric endocrinology | 2022-03-03 | PMID 34545167
Zhang Chang-Run, Shi Yuan-Ping, Zhang Cao-Xu and 9 more
An unusual phenotype occurs in 15% of mismatch repair-deficient tumors and is associated with non-colorectal cancers and genetic syndromes.
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc | 2022-03-01 | PMID 34545179
Jaffrelot Marion, Farés Nadim, Brunac Anne Cécile and 15 more
DEVOLUTION-A method for phylogenetic reconstruction of aneuploid cancers based on multiregional genotyping data.
Communications biology | 2021-09-20 | PMID 34545199
Andersson Natalie, Chattopadhyay Subhayan, Valind Anders and 2 more
Dissemination of Mycobacterium abscessus via global transmission networks.
Nature microbiology | 2021-10-01 | PMID 34545208
Ruis Christopher, Bryant Josephine M, Bell Scott C and 7 more
Evolution and progression of Barrett's oesophagus to oesophageal cancer.
Nature reviews. Cancer | 2021-11-01 | PMID 34545238
Killcoyne Sarah, Fitzgerald Rebecca C
A new era in functional genomics screens.
Nature reviews. Genetics | 2022-02-01 | PMID 34545248
Przybyla Laralynne, Gilbert Luke A
Loss of GATA4 C-Terminus by p.S335X Mutation Modulates Coronary Artery Vascular Smooth Muscle Cell Phenotype.
Mediators of inflammation | 2021-01-01 | PMID 34545275
Yu Ting-Yan, Chen Xin-Xin, Liu Qing-Wen and 4 more
Oxidative Stress Genes in Diabetes Mellitus Type 2: Association with Diabetic Kidney Disease.
Oxidative medicine and cellular longevity | 2021-01-01 | PMID 34545296
Roumeliotis Athanasios, Roumeliotis Stefanos, Tsetsos Fotis and 9 more
Whole Exome Sequencing Identifies Two Novel Mutations in a Patient with UC Associated with PSC and SSA.
Canadian journal of gastroenterology & hepatology | 2021-01-01 | PMID 34545326
Wu Dong, Chen Dan, Shi Wen and 3 more
Two adjacent C-terminal mutations enable expression of aryl-alcohol oxidase from Pleurotus eryngii in Pichia pastoris.
Applied microbiology and biotechnology | 2021-10-01 | PMID 34545417
Jankowski Nina, Urlacher Vlada B, Koschorreck Katja
Biallelic variants in YRDC cause a developmental disorder with progeroid features.
Human genetics | 2021-12-01 | PMID 34545459
Schmidt Julia, Goergens Jonas, Pochechueva Tatiana and 21 more
Outcomes of retesting in patients with previously uninformative cancer genetics evaluations.
Familial cancer | 2022-07-01 | PMID 34545504
Dettwyler Shenin A, Koeppe Erika S, Jacobs Michelle F and 1 more
Clinical and genetic factors are associated with kidney complications in African children with sickle cell anaemia.
British journal of haematology | 2022-01-01 | PMID 34545573
Adebayo Oyindamola Christiana, Betukumesu DieuMerci Kabasele, Nkoy Agathe Bikupe and 5 more
Renalase-A new understanding of its enzymatic and non-enzymatic activity and its implications for future research.
Clinical and experimental pharmacology & physiology | 2022-01-01 | PMID 34545616
Czerwińska Karolina, Poręba Rafał, Gać Paweł
Paternal retraction of a fragile X allele to normal size, showing normal function over two generations.
American journal of medical genetics. Part A | 2022-01-01 | PMID 34545686
Bartlett Essra, Archibald Alison D, Francis David and 13 more
Association between ABHD1 and DOK6 polymorphisms and susceptibility to Hirschsprung disease in Southern Chinese children.
Journal of cellular and molecular medicine | 2021-10-01 | PMID 34545688
Lan Chaoting, Wu Yuxin, Wang Ning and 10 more
Nicotinamide nucleotide transhydrogenase mutation analysis in Chinese patients with thyroid dysgenesis.
American journal of medical genetics. Part A | 2022-01-01 | PMID 34545694
Li Miaomiao, Tian Weibing, Wang Fengqi and 5 more
Clinical and molecular characterization of five Chinese patients with autosomal recessive osteopetrosis.
Molecular genetics & genomic medicine | 2021-11-01 | PMID 34545712
Liang Huanhuan, Li Niu, Yao Ru-En and 4 more
Genes: TCIRG1, CLCN7
Genetic Diversity of SARS-CoV-2 among Travelers Arriving in Hong Kong.
Emerging infectious diseases | 2021-10-01 | PMID 34545799
Gu Haogao, Chu Daniel K W, Chang Lydia D J and 13 more
Enhancing discoveries of molecular QTL studies with small sample size using summary statistic imputation.
Briefings in bioinformatics | 2022-01-17 | PMID 34545927
Wang Tao, Liu Yongzhuang, Yin Quanwei and 8 more
The novel HLA-A*31:191 allele was identified in a Chinese platelet donor.
HLA | 2022-01-01 | PMID 34546004
Yu Qiyue, Song Jing, Zhang Yanke and 2 more
The novel HLA-A*24 allele, HLA-A*24:487, identified in three unrelated bone marrow donors in Colombia.
HLA | 2021-12-01 | PMID 34546009
Hernández David Guillermo, Ramírez Nathalie Camacho, Martínez Melissa Mosquera and 2 more
SCONES: Self-Consistent Neural Network for Protein Stability Prediction Upon Mutation.
The journal of physical chemistry. B | 2021-09-30 | PMID 34546056
Samaga Yashas B L, Raghunathan Shampa, Priyakumar U Deva
Evaluation of the risk of metachronous multiple squamous cell carcinoma of the head and neck after transoral surgery based on the genetic polymorphisms of alcohol dehydrogenase 1B and aldehyde dehydrogenase 2.
Carcinogenesis | 2021-10-26 | PMID 34546328
Inoue Masaki, Shimizu Yuichi, Taniguchi Masanobu and 9 more
Implication of folate deficiency in CYP2U1 loss of function.
The Journal of experimental medicine | 2021-11-01 | PMID 34546337
Pujol Claire, Legrand Anne, Parodi Livia and 45 more
Gut-associated cGMP mediates colitis and dysbiosis in a mouse model of an activating mutation in GUCY2C.
The Journal of experimental medicine | 2021-11-01 | PMID 34546338
Mishra Vishwas, Bose Avipsa, Kiran Shashi and 7 more
Clinical Validation of the Onclarity Assay After Assay Migration to the High-Throughput COR Instrument Using SurePath Screening Samples From the Danish Cervical Cancer Screening Program.
American journal of clinical pathology | 2022-03-03 | PMID 34546350
Ejegod Ditte Møller, Pedersen Helle, Pedersen Birgitte Tønnes and 5 more
Identification and validation of an ECERIFERUM2- LIKE gene controlling cuticular wax biosynthesis in cabbage (Brassica oleracea L. var. capitata L.).
TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik | 2021-12-01 | PMID 34546379
Ji Jialei, Cao Wenxue, Tong Long and 6 more
A genome-wide association study reveals that the cytochrome b5 involved in seed reserve mobilization during seed germination in rice.
TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik | 2021-12-01 | PMID 34546380
Huang Zhibo, Ying Jifeng, Peng Liling and 5 more
Mycobacterium avium subsp. paratuberculosis (MAP) molecular diversity in cattle, sheep, and goats from Latin America and the Caribbean: a systematic review.
Tropical animal health and production | 2021-09-21 | PMID 34546430
Correa-Valencia Nathalia M, Moyano Roberto Damián, Hernández-Agudelo Miguel and 1 more
Clinical impact of rare variants associated with inherited channelopathies: a 5-year update.
Human genetics | 2022-10-01 | PMID 34546463
Sarquella-Brugada Georgia, Fernandez-Falgueras Anna, Cesar Sergi and 21 more
Mutational landscape of TRPC6, WT1, LMX1B, APOL1, PTPRO, PMM2, LAMB2 and WT1 genes associated with Steroid resistant nephrotic syndrome.
Molecular biology reports | 2021-11-01 | PMID 34546508
Thakor Jinal M, Parmar Glory, Mistry Kinnari N and 3 more
Association of cholesterol 7α-hydroxylase (CYP7A1) promoter polymorphism (rs3808607) and cholesterol 24S-hydroxylase (CYP46A1) intron 2 polymorphism (rs754203) with serum lipids, vitamin D levels, and multiple sclerosis risk in the Turkish population.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology | 2022-04-01 | PMID 34546511
Sezer Eda, Can Demirdöğen Birsen, Demirkaya Şeref and 4 more
Association between TLR2 polymorphisms (- 196-174 Ins/Del, R677W, R753Q, and P631H) and schizophrenia in a Tunisian population.
Immunologic research | 2021-12-01 | PMID 34546527
Aflouk Youssef, Inoubli Oumaima, Saoud Hana and 3 more
Self-Internal-Reference Probe System for Control-Free Quantification of Mutation Abundance.
Analytical chemistry | 2021-10-05 | PMID 34546716
Tang Xiaofeng, Chen Xin, Liao Yangwei and 7 more
O-GlcNAcylation of High Mobility Group Box 1 (HMGB1) Alters Its DNA Binding and DNA Damage Processing Activities.
Journal of the American Chemical Society | 2021-10-06 | PMID 34546745
Balana Aaron T, Mukherjee Anirban, Nagpal Harsh and 4 more
Human RyR2 (Ryanodine Receptor 2) Loss-of-Function Mutations: Clinical Phenotypes and In Vitro Characterization.
Circulation. Arrhythmia and electrophysiology | 2021-09-01 | PMID 34546788
Li Yanhui, Wei Jinhong, Guo Wenting and 12 more
Gene-environment Interaction in Spherical Equivalent and Myopia: An Evidence-based Review.
Ophthalmic epidemiology | 2022-08-01 | PMID 34546856
Zhang Xiyan, Fan Qiao, Zhang Fengyun and 2 more
Hyperexcitable interneurons trigger cortical spreading depression in an Scn1a migraine model.
The Journal of clinical investigation | 2021-11-01 | PMID 34546973
Auffenberg Eva, Hedrich Ulrike Bs, Barbieri Raffaella and 17 more
U2af1 is a haplo-essential gene required for hematopoietic cancer cell survival in mice.
The Journal of clinical investigation | 2021-11-01 | PMID 34546980
Wadugu Brian A, Nonavinkere Srivatsan Sridhar, Heard Amanda and 13 more
Gingival Phenotype Modification as a Result of Root Coverage Procedure with Two Human Dermal Matrices: Long-Term Assessment of a Randomized Clinical Trial.
The International journal of periodontics & restorative dentistry | 2000-01-01 | PMID 34547076
Barootchi Shayan, Tavelli Lorenzo, Di Gianfilippo Riccardo and 4 more
CRYPTOSPORIDIUM SPP. IN PET DWARF WINTER WHITE RUSSIAN HAMSTERS (PHODOPUS SUNGORIS SUNGORIS) IN CHINA.
The Journal of parasitology | 2021-09-01 | PMID 34547101
Chen Shanyu, Chai Yijun, Deng Lei and 8 more
Inhibition of autophagy rescues muscle atrophy in a LGMDD2 Drosophila model.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology | 2021-10-01 | PMID 34547132
Blázquez-Bernal Águeda, Fernandez-Costa Juan M, Bargiela Ariadna and 1 more
Intragenic NF1 deletions in sinonasal mucosal malignant melanoma.
Pigment cell & melanoma research | 2022-01-01 | PMID 34547192
Riobello Cristina, Casanueva Muruais Rodrigo, Suárez-Fernández Laura and 8 more
Congenital hyperinsulinism: recent updates on molecular mechanisms, diagnosis and management.
Journal of pediatric endocrinology & metabolism : JPEM | 2022-03-28 | PMID 34547194
Giri Dinesh, Hawton Katherine, Senniappan Senthil
Low-intensity pulsed ultrasound prevents angiotensin II-induced aortic smooth muscle cell phenotypic switch via hampering miR-17-5p and enhancing PPAR-γ.
European journal of pharmacology | 2021-11-15 | PMID 34547245
Zhao Kun, Wu Tingting, Yang Chuanxi and 9 more
A novel compound heterozygous mutation of the MTO1 gene associated with complex oxidative phosphorylation deficiency type 10.
Clinica chimica acta; international journal of clinical chemistry | 2021-12-01 | PMID 34547275
Luo Qing, Wen Xia, Zhou Jiahong and 4 more
miR-802 Suppresses Acinar-to-Ductal Reprogramming During Early Pancreatitis and Pancreatic Carcinogenesis.
Gastroenterology | 2022-01-01 | PMID 34547282
Ge Wenjie, Goga Algera, He Yuliang and 7 more
Hyperthermostability of prawn ferritin nanocage facilitates its application as a robust nanovehicle for nutraceuticals.
International journal of biological macromolecules | 2021-11-30 | PMID 34547309
Tan Xiaoyi, Liu Yu, Zang Jiachen and 2 more
SMAD3 rs36221701 T>C polymorphism impacts COPD susceptibility in the Kashi population.
Gene | 2022-01-15 | PMID 34547372
Gong Hui, Ren Jie, Xu Jingran and 9 more
Autoimmunity in lipodystrophy syndromes.
Presse medicale (Paris, France : 1983) | 2021-11-01 | PMID 34547374
Ceccarini Giovanni, Magno Silvia, Gilio Donatella and 2 more
Steroid profiling and genetic variants in Chinese women with gestational diabetes mellitus.
The Journal of steroid biochemistry and molecular biology | 2021-11-01 | PMID 34547380
Yuan Tengfei, Li Yan
Characterisation of SARS-CoV-2 clades based on signature SNPs unveils continuous evolution.
Methods (San Diego, Calif.) | 2022-07-01 | PMID 34547443
Ghosh Nimisha, Saha Indrajit, Nandi Suman and 1 more
The -592C>A variation of IL-10 gene and susceptibility to chronic periodontitis: A genetic association study and in-silico analysis.
Journal of oral biosciences | 2021-12-01 | PMID 34547455
Sarfaraz Dorna, Karimian Mohammad, Farmohammadi Amir and 1 more
Characterizing the gene mutations associated with resistance to gatifloxacin in Mycobacterium tuberculosis through whole-genome sequencing.
International journal of infectious diseases : IJID : official publication of the International Society for Infectious Diseases | 2021-11-01 | PMID 34547490
Bi Jing, Guo Qinglong, Fu Xiangdong and 8 more
An alternative, zeaxanthin epoxidase-independent abscisic acid biosynthetic pathway in plants.
Molecular plant | 2022-01-03 | PMID 34547513
Jia Kun-Peng, Mi Jianing, Ali Shawkat and 11 more
Hypophosphatasia: Vitamin B6 status of affected children and adults.
Bone | 2022-01-01 | PMID 34547524
Whyte Michael P, Zhang Fan, Wenkert Deborah and 4 more
Gait phenotype in Batten disease: A marker of disease progression.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society | 2021-11-01 | PMID 34547583
Ostergaard John R
Abnormal frontal gyrification pattern and uncinate development in patients with KBG syndrome caused by ANKRD11 aberrations.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society | 2021-11-01 | PMID 34547584
Jiménez de la Peña Mar, Fernández-Mayoralas Daniel Martín, López-Martín Sara and 7 more
Hematologically important mutations: The autosomal forms of chronic granulomatous disease (third update).
Blood cells, molecules & diseases | 2021-12-01 | PMID 34547651
Roos Dirk, van Leeuwen Karin, Hsu Amy P and 33 more
Genome-wide association study reveals genetic variations associated with ocean acidification resilience in Yesso scallop Patinopecten yessoensis.
Aquatic toxicology (Amsterdam, Netherlands) | 2021-11-01 | PMID 34547702
Yang Zujing, Sun Fanhua, Liao Huan and 6 more
Establishment of an induced pluripotent stem cell line (NCKDi003-A) from a patient with X-linked Dent disease (X-Dent) carrying the hemizygote mutation p. T277P (c. 829A > C) in the CLCN5 gene.
Stem cell research | 2021-10-01 | PMID 34547705
Hu Lidan, Wang Gang, Wu Hangdi and 5 more
Hereditary Breast and Ovarian Cancer Screening Syndrome Profile in Women Diagnosed with Breast Cancer from Paraná State Southwest.
Revista brasileira de ginecologia e obstetricia : revista da Federacao Brasileira das Sociedades de Ginecologia e Obstetricia | 2021-08-01 | PMID 34547796
Moura Juliana Batista de, Ghedin Carla Camila, Takakura Érika Tomie and 3 more
Activating HRAS mutation in a case of inverted ductal papilloma of the salivary gland.
Pathology international | 2021-12-01 | PMID 34547823
Ide Fumio, Ito Yumi, Kikuchi Kentaro and 3 more