A Novel Somatic Mutation of CACNA1H p.V1937M in Unilateral Primary Hyperaldosteronism.
Frontiers in endocrinology | 2022-01-01 | PMID 35757409
Tseng Chi-Shin, Peng Kang-Yung, Wang Shuo-Meng and 6 more
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 8939 of 10600
Genotype, Mortality, Morbidity, and Outcomes of 3β-Hydroxysteroid Dehydrogenase Deficiency in Algeria.
Frontiers in endocrinology | 2022-01-01 | PMID 35757411
Ladjouze Asmahane, Donaldson Malcolm, Plotton Ingrid and 8 more
Transforming Growth Factor Beta Receptor 2 (TGFBR2) Promoter Region Polymorphisms May Be Involved in Mandibular Retrognathism.
BioMed research international | 2022-01-01 | PMID 35757474
Kirschneck Margarita, Zbidat Nermien, Paddenberg Eva and 7 more
Causal Association Between Inflammatory Bowel Disease and Psoriasis: A Two-Sample Bidirectional Mendelian Randomization Study.
Frontiers in immunology | 2022-01-01 | PMID 35757704
Li Yajia, Guo Jia, Cao Ziqin and 1 more
Global Expansion of Jeffrey's Insights: Jeffrey Modell Foundation's Genetic Sequencing Program for Primary Immunodeficiency.
Frontiers in immunology | 2022-01-01 | PMID 35757720
Quinn Jessica, Modell Vicki, Johnson Britt and 4 more
Targeting MET amplification in Gastro-oesophageal (GO) malignancies and overcoming MET inhibitor resistance: challenges and opportunities.
Expert review of gastroenterology & hepatology | 2022-07-01 | PMID 35757852
Harrold Emily, Corrigan Lynda, Barry Simon and 1 more
Reared-Apart and Reunited: Extraordinary Dynamics/Twin Research Reviews: Twin Bereavement and Lifespan Associations; Identifying Novel Mutations in Twins; Parenting Premature Multiples; Conjoined Twins in Cross-Cultural Context/In the News: Madeline Albright, Mother of Twins, Passes Away; Identical Twin Songwriters Compose New Musical; Visually Impaired Twin Skiers; Identical Twin Brothers Undergo Heart Transplants; Naming the Genain Quadruplets.
Twin research and human genetics : the official journal of the International Society for Twin Studies | 2022-06-01 | PMID 35757955
Segal Nancy L
A case of congenital fiber-type disproportion syndrome presenting dilated cardiomyopathy with ACTA1 mutation.
Molecular genetics & genomic medicine | 2022-09-01 | PMID 35757965
Matsumoto Ayumi, Tsuda Hidetoshi, Furui Sadahiro and 9 more
ABCC8-related maturity-onset diabetes of the young: Clinical features and genetic analysis of one case.
Pediatric diabetes | 2022-08-01 | PMID 35757975
Zhou Yun, Sun Yan, Xu Chao and 6 more
Primary CoQ10 deficiency with a severe phenotype due to the c.901 C > T (p.R301W) mutation in the COQ8A gene.
The International journal of neuroscience | 2024-06-01 | PMID 35757998
Değerliyurt Aydan, Gülleroğlu Nadide Başak, Kibar Gül Ayşe Esin
Contribution of model organism phenotypes to the computational identification of human disease genes.
Disease models & mechanisms | 2022-07-01 | PMID 35758016
Alghamdi Sarah M, Schofield Paul N, Hoehndorf Robert
Description of two novel HLA alleles: HLA-C*01:02:73 and HLA-C*01:02:75.
HLA | 2022-11-01 | PMID 35758046
Tao Sudan, Wang Jielin, Wang Fang and 2 more
[Prognostic value of TERT mutation in adults with primary glioblastomas. Preliminary results].
Zhurnal voprosy neirokhirurgii imeni N. N. Burdenko | 2022-01-01 | PMID 35758076
Zolotova S V, Anoshkin K I, Absalyamova O V and 4 more
[Efficacy of the encorafenib + binimetinib combination in a BRAF mutated metastatic melanoma case report].
Recenti progressi in medicina | 2022-06-01 | PMID 35758129
Di Guardo Lorenza
CONSORT-Characteristics and metabolic phenotype of gut microbiota in NAFLD patients.
Medicine | 2022-06-24 | PMID 35758365
Ge Haize, Wei Wei, Tang Liang and 4 more
Clinical and genetic features of congenital bile acid synthesis defect with a novel mutation in AKR1D1 gene sequencing: Case reports.
Medicine | 2022-06-24 | PMID 35758383
Pham Anh-Hoa Nguyen, Thi Kim-Oanh Bui, Thi Mai-Huong Nguyen and 12 more
IMPACT OF FGFR4 (GLY388ARG) GENE POLYMORPHISM ALONG WITH VISFATIN CYTOKINE AND HIGH MOBILITY GROUP BOX-1 (HMGB1) ON ACUTE CHOLECYSTITIS.
Wiadomosci lekarskie (Warsaw, Poland : 1960) | 2022-01-01 | PMID 35758438
Alfuaadi Israa H, Altamemi Ibrahim A
ASSOCIATIONS OF ENOS GLU298ASP (G894T) ENDOTHELIAL DYSFUNCTION GENE POLYMORPHISMS WITH METABOLIC DISORDERS IN PATHOLOGICAL PREGNANCY.
Wiadomosci lekarskie (Warsaw, Poland : 1960) | 2022-01-01 | PMID 35758459
Ostafiichuk Svitlana O, Prudnikov Pavlo M, Volosovskiy Pavlo R and 3 more
SINGLE NUCLEOTIDE POLYMORPHISM RS4696480 OF TLR2 GENE ASSOCIATES WITH SEVERITY OF ATOPIC DERMATITIS IN CHILDREN, BUT NOT WITH IGE SENSITIZATION TO MALASSEZIA.
Wiadomosci lekarskie (Warsaw, Poland : 1960) | 2022-01-01 | PMID 35758480
Mozyrska Olena V, Volosovets Oleksandr P, Kryvopustov Sergii P and 4 more
Genetic contributions to female gout and hyperuricaemia using genome-wide association study and polygenic risk score analyses.
Rheumatology (Oxford, England) | 2023-02-01 | PMID 35758599
Lin Chien-Yu, Chang Ya-Sian, Liu Ting-Yuan and 6 more
Early onset disease, anarthria, areflexia, and dystonia can be the distinctive features of SPG64, a very rare form of hereditary spastic paraplegias.
American journal of medical genetics. Part A | 2022-09-01 | PMID 35758610
Ölmez Akgün, Çetin Gökhan Ozan, Karaer Kadri
Accuracy of genomic prediction of maternal traits in pigs using Bayesian variable selection methods.
Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie | 2022-11-01 | PMID 35758628
Kjetså Maria V, Gjuvsland Arne B, Nordbø Øyvind and 2 more
Mutations in the 3'-PPT Lead to HIV-1 Replication without Integration.
Journal of virology | 2022-07-27 | PMID 35758669
Richetta Clémence, Subra Frédéric, Malet Isabelle and 11 more
Identification of SARS-CoV-2 Variants of Concern Using Amplicon Next-Generation Sequencing.
Microbiology spectrum | 2022-08-31 | PMID 35758686
Nasereddin Abdelmajeed, Golan Berman Hadar, Wolf Dana G and 2 more
PolarMorphism enables discovery of shared genetic variants across multiple traits from GWAS summary statistics.
Bioinformatics (Oxford, England) | 2022-06-24 | PMID 35758773
von Berg Joanna, Ten Dam Michelle, van der Laan Sander W and 1 more
Association of methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms (C677T and A1298C) with thyroid dysfunction: A meta-analysis and trial sequential analysis.
Archives of endocrinology and metabolism | 2000-01-01 | PMID 35758831
Yang Rui, Pu Danhua, Tan Rongrong and 1 more
Maternal Testosterone and Offspring Birth Weight: A Mendelian Randomization Study.
The Journal of clinical endocrinology and metabolism | 2022-08-18 | PMID 35758857
Zheng Bing-Kun, Sun Xue-Yi, Xian Jie and 1 more
[Characterization of genetic polymorphisms associated with neurophysiological processes and analysis of their allele frequency distribution in the Russian population].
Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova | 2022-01-01 | PMID 35758957
Kutelev G G, Malyshkin S S, Krivoruchko A B and 5 more
[Clinical case of MELAS syndrom].
Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova | 2022-01-01 | PMID 35758962
Goldobin V V, Klocheva E G, Afanasyeva M Yu and 1 more
Three key genes expression profiling in Egyptian rheumatoid arthritis patients.
The Egyptian journal of immunology | 2022-07-01 | PMID 35758965
Abdelnaby Mai M, Badran Dahlia I, Anani Maha M and 5 more
Disheveled EGL-10 and pleckstrin domain-containing 5 rs1012068 T/G gene polymorphism among Egyptian chronic HCV-infected patients: disease progression and related complications.
The Egyptian journal of immunology | 2022-07-01 | PMID 35758967
Farhan Hanan M, Abougabal Khadiga, Gaber Heba F and 1 more
Variants in genes coding for collagen type IV α-chains are frequent causes of persistent, isolated hematuria during childhood.
Pediatric nephrology (Berlin, Germany) | 2023-03-01 | PMID 35759000
Alge Joseph L, Bekheirnia Nasim, Willcockson Alexandra R and 4 more
Diet quality, common genetic polymorphisms, and bladder cancer risk in a New England population-based study.
European journal of nutrition | 2022-12-01 | PMID 35759030
Leeming Reno C, Koutros Stella, Karagas Margaret R and 8 more
Proceedings of the fifth international Molecular Pathological Epidemiology (MPE) meeting.
Cancer causes & control : CCC | 2022-08-01 | PMID 35759080
Yao Song, Campbell Peter T, Ugai Tomotaka and 25 more
Modeling tuberous sclerosis complex with human induced pluripotent stem cells.
World journal of pediatrics : WJP | 2024-03-01 | PMID 35759110
Niu Weibo, Siciliano Benjamin, Wen Zhexing
Genetic variations in the ATP-binding cassette transporter ABCC10 are associated with neutropenia in Japanese patients with lung cancer treated with nanoparticle albumin-bound paclitaxel.
Investigational new drugs | 2022-10-01 | PMID 35759133
Horiuchi Minoru, Uemura Takehiro, Oguri Tetsuya and 15 more
Titin-related Cardiomyopathy: Is it a Distinct Disease?
Current cardiology reports | 2022-09-01 | PMID 35759169
Santiago Celine F, Huttner Inken G, Fatkin Diane
Functional Assessment of Disease-Associated Pyrin Variants.
Methods in molecular biology (Clifton, N.J.) | 2022-01-01 | PMID 35759198
Chirita Daria, Jamilloux Yvan, Henry Thomas and 1 more
Association of the MACROD2 rs6110695 A>G polymorphism with an increasing WBC count in a Korean population.
Immunity, inflammation and disease | 2022-07-01 | PMID 35759225
Yang Jihye, Han Youngmin, Lee Jong Ho and 1 more
EBV protection- and susceptibility-related HLA alleles and EBV status in the Chinese population: A single-center study.
Immunity, inflammation and disease | 2022-07-01 | PMID 35759244
Suolitiken Dina, Wang Yini, Jin Zhili and 1 more
Mutations in TAF8 cause a neurodegenerative disorder.
Brain : a journal of neurology | 2022-09-14 | PMID 35759269
Wong Keit Men, Jepsen Wayne M, Efthymiou Stephanie and 18 more
Association of APOE Genotypes and Chronic Traumatic Encephalopathy.
JAMA neurology | 2022-08-01 | PMID 35759276
Atherton Kathryn, Han Xudong, Chung Jaeyoon and 29 more
A 2-bp deletion in intron 1 of TMEM182 is associated with TMEM182 mRNA expression and chicken body weight.
British poultry science | 2023-02-01 | PMID 35759289
Lin Z T, Chen G H, Peng X and 7 more
Exosomal Transfer of DNA Methyl-Transferase mRNA Induces an Immunosuppressive Phenotype in Human Monocytes.
Shock (Augusta, Ga.) | 2022-06-01 | PMID 35759303
Wisler Jon R, Singh Kanhaiya, McCarty Adara and 7 more
Defining Sepsis Phenotypes-Two Murine Models of Sepsis and Machine Learning.
Shock (Augusta, Ga.) | 2022-06-01 | PMID 35759307
Stolarski Allan E, Kim Jiyoun, Nudel Jacob and 2 more
Male Marfan mice are predisposed to high-fat diet-induced obesity, diabetes, and fatty liver.
American journal of physiology. Cell physiology | 2022-08-01 | PMID 35759435
Tiedemann Kerstin, Muthu Muthu L, Reinhardt Dieter P and 1 more
Frequency distribution of cytokine and associated transcription factor single nucleotide polymorphisms in Zimbabweans: Impact on schistosome infection and cytokine levels.
PLoS neglected tropical diseases | 2022-06-01 | PMID 35759449
Hanton Andrew John, Scott Fiona, Stenzel Katharina and 4 more
Genome sequence diversity of SARS-CoV-2 obtained from clinical samples in Uzbekistan.
PloS one | 2022-01-01 | PMID 35759503
Abdullaev Alisher, Abdurakhimov Abrorjon, Mirakbarova Zebinisa and 6 more
Covalent docking and molecular dynamics simulations reveal the specificity-shifting mutations Ala237Arg and Ala237Lys in TEM beta-lactamase.
PLoS computational biology | 2022-06-01 | PMID 35759512
Silva Gabriel Monteiro da, Yang Jordan, Leang Bunlong and 3 more
A socially polymorphic Formica ant species exhibits a novel distribution of social supergene genotypes.
Journal of evolutionary biology | 2022-08-01 | PMID 35759556
Pierce Daniel, Sun Penglin, Purcell Jessica and 1 more
Activating STING1-dependent immune signaling in TP53 mutant and wild-type acute myeloid leukemia.
Proceedings of the National Academy of Sciences of the United States of America | 2022-07-05 | PMID 35759659
Kogan Aksinija A, Topper Michael J, Dellomo Anna J and 9 more
Aberrant expansion of spontaneous splenic germinal centers induced by hallmark genetic lesions of aggressive lymphoma.
Blood | 2022-09-08 | PMID 35759728
Pindzola Grace M, Razzaghi Raud, Tavory Rachel N and 12 more
Expression of HLA and Autoimmune Pathway Genes in Liver Biopsies of Young Subjects With Autoimmune Hepatitis Type 1.
Journal of pediatric gastroenterology and nutrition | 2022-09-01 | PMID 35759748
Shin Emilia, Schwarz Kathleen B, Jones-Brando Lorraine V and 4 more
A systematic review of economic evaluations of tyrosine kinase inhibitors for non-small cell lung cancer (NSCLC).
Expert opinion on pharmacotherapy | 2022-08-01 | PMID 35759783
Byun Joo-Young, Park Sun-Kyeong, Ng Boon Peng and 3 more
Point (S-to-G) Mutations in the W(S/G)GE Motif in Red/Green Cyanobacteriochrome GAF Domains Enhance Thermal Reversion Rates.
Biochemistry | 2022-07-19 | PMID 35759789
Jang Jaewan, Reed P Maximilian M, Rauscher Sarah and 1 more
Changing distribution of rotavirus A genotypes circulating in Japanese children with acute gastroenteritis in outpatient clinic, 2014-2020.
Journal of infection and public health | 2022-07-01 | PMID 35759807
Okitsu Shoko, Khamrin Pattara, Hikita Toshiyuki and 6 more
Clinical impact of STK11 mutation in advanced-stage non-small cell lung cancer.
European journal of cancer (Oxford, England : 1990) | 2022-09-01 | PMID 35759814
Rosellini Pietro, Amintas Samuel, Caumont Charline and 9 more
Human leucocyte antigen genotype association with the development of immune-related adverse events in patients with non-small cell lung cancer treated with single agent immunotherapy.
European journal of cancer (Oxford, England : 1990) | 2022-09-01 | PMID 35759816
Abed Afaf, Law Ngie, Calapre Leslie and 5 more
Understanding the Uptake and Challenges of Genetic Testing Guidelines for Prostate Cancer Patients.
Cancer treatment and research communications | 2022-01-01 | PMID 35759831
Suri Yash, Yasmeh Jonathan Parham, Basu Arnab
Associations of MALAT1 and its functional single nucleotide polymorphisms with cancer.
Pathology, research and practice | 2022-08-01 | PMID 35759938
Cao Lina, Yan Guodong, Yu Shumin and 5 more
Generation of an induced pluripotent stem cells line, CSSi014-A 9407, carrying the variant c.479C>T in the human iduronate 2-sulfatase (hIDS) gene.
Stem cell research | 2022-08-01 | PMID 35759972
Casamassa Alessia, Zanetti Alessandra, Ferrari Daniela and 9 more
Deletion of matrix metalloproteinase-12 compromises mechanical homeostasis and leads to an aged aortic phenotype in young mice.
Journal of biomechanics | 2022-08-01 | PMID 35759974
Spronck Bart, Ramachandra Abhay B, Moriyama Lauren and 4 more
Genomic analysis of 9 infants with hypermethioninemia by whole-exome sequencing among in Henan, China.
Clinica chimica acta; international journal of clinical chemistry | 2022-08-01 | PMID 35760084
Zhao Dehua, Ni Min, Jia Chenlu and 7 more
Heterozygous p.Y955C mutation in DNA polymerase γ leads to alterations in bioenergetics, complex I subunit expression, and mtDNA replication.
The Journal of biological chemistry | 2022-08-01 | PMID 35760101
Rahman Md Mostafijur, Young Carolyn K J, Goffart Steffi and 2 more
Effect of the ADCC-Modulating Mutations and the Selection of Human IgG Isotypes on Physicochemical Properties of Fc.
Journal of pharmaceutical sciences | 2022-09-01 | PMID 35760121
Wu Helen Haixia, Crames Maureen, Wei Yangjie and 8 more
Genetic susceptibility to telomere shortening through the rs2293607 polymorphism is associated with a greater risk of alcohol use disorder.
Mechanisms of ageing and development | 2022-09-01 | PMID 35760210
Llorente Hernán, Perez-Rivera Jose-Angel, Perez-Nieto María and 9 more
Genetic control of serum 25(OH)D levels and its association with ethnicity.
The Journal of steroid biochemistry and molecular biology | 2022-09-01 | PMID 35760298
Grant Matthew J, Wu Zhenqiang, Snell Russell and 5 more
Induction of a NOTCH3 Lehman syndrome mutation in osteocytes causes osteopenia in male C57BL/6J mice.
Bone | 2022-09-01 | PMID 35760307
Canalis E, Yee S P, Economides A N and 2 more
Conformational Effects of a Cancer-Linked Mutation in Pri-miR-30c RNA.
Journal of molecular biology | 2022-09-30 | PMID 35760371
Jones Alisha N, Walbrun Andreas, Falleroni Fabio and 2 more
Rapid and qualitative identification of SARS-CoV-2 mutations associated with variants of concern using a multiplex RT-PCR assay coupled with melting analysis.
International journal of infectious diseases : IJID : official publication of the International Society for Infectious Diseases | 2022-09-01 | PMID 35760381
Sberna Giuseppe, Fabeni Lavinia, Berno Giulia and 8 more
Novel ophthalmic findings and deep phenotyping in Williams-Beuren syndrome.
The British journal of ophthalmology | 2023-10-01 | PMID 35760456
Huryn Laryssa A, Flaherty Taylor, Nolen Rosalie and 10 more
A prospective observational study to evaluate Glutathione S-transferase gene polymorphism and its association with Antitubercular drugs induced liver injury in tertiary hospital.
The Indian journal of tuberculosis | 2022-07-01 | PMID 35760484
Akhtar Javed, Singh Sarvesh, Verma Ajay Kumar and 2 more
Biomarker underuse contributes to an inability to phenotype patients with severe uncontrolled asthma.
Allergy and asthma proceedings | 2022-09-27 | PMID 35760498
Khan Najm S, Rubin Elizabeth, McKenna Bernard and 4 more
Thousands of human mutation clusters are explained by short-range template switching.
Genome research | 2022-08-25 | PMID 35760560
Löytynoja Ari
Proactive functional classification of all possible missense single-nucleotide variants in KCNQ4.
Genome research | 2022-08-25 | PMID 35760561
Zheng Honglan, Yan Xinhao, Li Guanluan and 9 more
Association of IL-8 -251T>A and IL-18 -607C>A polymorphisms with susceptibility to breast cancer - a meta-analysis.
Klinicka onkologie : casopis Ceske a Slovenske onkologicke spolecnosti | 2022-01-01 | PMID 35760570
Farbod M, Dastgheib S A, Asadian F and 6 more
MGIT sensitivity testing and genotyping of drug resistant Mycobacterium tuberculosis isolates from Mizoram, Northeast India.
Indian journal of medical microbiology | 2000-01-01 | PMID 35760644
Sailo Christine Vanlalbiakdiki, Zami Zothan, Lalremruata Ralte and 8 more
Common genetic variation associated with Mendelian disease severity revealed through cryptic phenotype analysis.
Nature communications | 2022-06-27 | PMID 35760791
Blair David R, Hoffmann Thomas J, Shieh Joseph T
Context-aware deconvolution of cell-cell communication with Tensor-cell2cell.
Nature communications | 2022-06-27 | PMID 35760817
Armingol Erick, Baghdassarian Hratch M, Martino Cameron and 4 more
Emergence of a mutation in the nucleocapsid gene of SARS-CoV-2 interferes with PCR detection in Canada.
Scientific reports | 2022-06-27 | PMID 35760824
Isabel Sandra, Abdulnoor Mariana, Boissinot Karel and 12 more
Ventral prefrontal serotonin 1A receptor binding: a neural marker of vulnerability for mood disorder and suicidal behavior?
Molecular psychiatry | 2022-10-01 | PMID 35760877
Pantazatos Spiro P, Melhem Nadine M, Brent David A and 6 more
The genetic and evolutionary determinants of COVID-19 susceptibility.
European journal of human genetics : EJHG | 2022-08-01 | PMID 35760904
Kerner Gaspard, Quintana-Murci Lluis
Pancreatic, hepatobiliary, and gastrointestinal manifestations of children with cystic fibrosis: A 10-year experience from a tertiary care center in southern India.
Indian journal of gastroenterology : official journal of the Indian Society of Gastroenterology | 2022-06-01 | PMID 35761057
Thomas Leenath, Kumar Madhan, Lionel B Arul Premanand and 2 more
Multiple Alr genes exhibit allorecognition-associated variation in the colonial cnidarian Hydractinia.
Immunogenetics | 2022-12-01 | PMID 35761101
Rodriguez-Valbuena Henry, Gonzalez-Muñoz Andrea, Cadavid Luis F
Monogenic inflammatory bowel disease-genetic variants, functional mechanisms and personalised medicine in clinical practice.
Human genetics | 2023-05-01 | PMID 35761107
Azabdaftari Aline, Jones Kelsey D J, Kammermeier Jochen and 1 more
Impact of linkage disequilibrium heterogeneity along the genome on genomic prediction and heritability estimation.
Genetics, selection, evolution : GSE | 2022-06-27 | PMID 35761182
Ren Duanyang, Cai Xiaodian, Lin Qing and 5 more
A novel mutation of KCNJ1 identified in an affected child with nephrolithiasis.
BMC nephrology | 2022-06-27 | PMID 35761198
Yang Saisai, Yao Guanghui, Chen Xin and 7 more
One case of arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome featuring an incomplete and mild phenotype.
BMC nephrology | 2022-06-27 | PMID 35761207
Yu Lianhu, Li Dan, Zhang Ting and 3 more
Polygenic risk scores indicate extreme ages at onset of breast cancer in female BRCA1/2 pathogenic variant carriers.
BMC cancer | 2022-06-27 | PMID 35761208
Borde Julika, Laitman Yael, Blümcke Britta and 21 more
Comprehensive genetic testing improves the clinical diagnosis and medical management of pediatric patients with isolated hearing loss.
BMC medical genomics | 2022-06-27 | PMID 35761346
Xiang Jiale, Jin Yuan, Song Nana and 6 more
Associations of the A118G OPRM1 polymorphism with sociotropy and interpersonal sensitivity.
Brain and behavior | 2022-07-01 | PMID 35761357
Suzuki Akihito, Shirata Toshinori, Noto Keisuke and 5 more
Widespread redundancy in -omics profiles of cancer mutation states.
Genome biology | 2022-06-27 | PMID 35761387
Crawford Jake, Christensen Brock C, Chikina Maria and 1 more
A theory-based practical solution to correct for sex-differential participation bias.
Genome biology | 2022-06-27 | PMID 35761388
Lee Hanbin, Han Buhm
Somatic targeted mutation profiling of colorectal cancer precursor lesions.
BMC medical genomics | 2022-06-28 | PMID 35761395
Dos Santos Wellington, Dos Reis Mariana Bisarro, Porto Jun and 6 more
Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes.
Genome medicine | 2022-06-28 | PMID 35761418
Schramm Catherine, Charbonnier Camille, Zaréa Aline and 9 more
Associations Between Morphological Phenotypes of COPD and Clinical Characteristics in Surgically Resected Patients with COPD and Concomitant Lung Cancer.
International journal of chronic obstructive pulmonary disease | 2022-01-01 | PMID 35761955
Suzuki Yusuke, Kitaguchi Yoshiaki, Ueno Fumika and 6 more
Heme oxygenase-1 gene rs2071746 polymorphism in retinal vein occlusion.
Ophthalmic genetics | 2022-10-01 | PMID 35762119
Posch-Pertl Laura, List Wolfgang, Michelitsch Monja and 6 more
Rare germline variants in PALB2 and BRCA2 in familial and sporadic chordoma.
Human mutation | 2022-10-01 | PMID 35762214
Xia Bing, Biswas Kajal, Foo Tzeh K and 27 more
Polarized trafficking and copper transport activity of ATP7B: A mutational approach to establish genotype-phenotype correlation in Wilson disease.
Human mutation | 2022-10-01 | PMID 35762218
Das Santanu, Mohammed Ameena, Mandal Taniya and 4 more
New missense mutation p.Trp387Ser affecting the functionally important TrpXXTrp motif in the TSR1 repeat of ADAMTS13 metalloproteinase: Case report.
Clinical and experimental pharmacology & physiology | 2022-11-01 | PMID 35762256
Poznyakova Julia, Pshenichnikova Olesya, Surin Vadim and 2 more