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.

Semantic proximity supports literature exploration. It does not establish scientific or clinical evidence.

Publications

Page 9291 of 10600

Psychosocial moderators of polygenic risk scores of inflammatory biomarkers in relation to GrimAge.
Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology | 2024-03-01 | PMID 37848731
Tamman Amanda J F, Koller Dora, Nagamatsu Sheila and 7 more
Molecular biomarkers for assessing the heat-adapted phenotype: a narrative scoping review.
The journal of physiological sciences : JPS | 2023-10-17 | PMID 37848829
Corbett J, Young J S, Tipton M J and 5 more
Differential transcriptome response following infection of porcine ileal enteroids with species A and C rotaviruses.
Virology journal | 2023-10-17 | PMID 37848925
Raev Sergei A, Raque Molly, Kick Maryssa K and 2 more
SGLT2 inhibition, circulating metabolites, and atrial fibrillation: a Mendelian randomization study.
Cardiovascular diabetology | 2023-10-17 | PMID 37848934
Li Jiang, Yu Yuefeng, Sun Ying and 5 more
KDM4C-mediated senescence defense is a targetable vulnerability in gastric cancer harboring TP53 mutations.
Clinical epigenetics | 2023-10-17 | PMID 37848946
Wang Kaiqing, Gong Zhicheng, Chen Yanyan and 6 more
Distinct non-synonymous mutations in cytochrome b highly correlate with decoquinate resistance in apicomplexan parasite Eimeria tenella.
Parasites & vectors | 2023-10-17 | PMID 37848977
Hao Zhenkai, Chen Junmin, Sun Pei and 10 more
Some genetic differences in patients with rheumatoid arthritis.
BMC research notes | 2023-10-17 | PMID 37849009
Ahmad Hosam M, Zaki Zaki M, Mohamed Asmaa S and 1 more
Long-term normalization of calcineurin activity in model mice rescues Pin1 and attenuates Alzheimer's phenotypes without blocking peripheral T cell IL-2 response.
Alzheimer's research & therapy | 2023-10-17 | PMID 37849016
Stallings Nancy R, O'Neal Melissa A, Hu Jie and 2 more
Quantifying the Expanding Landscape of Clinical Actionability for Patients with Cancer.
Cancer discovery | 2024-01-12 | PMID 37849038
Suehnholz Sarah P, Nissan Moriah H, Zhang Hongxin and 23 more
Unveiling the clinical and electrophysiological profile of CMTX6: Insights from two Brazilian families.
Journal of the peripheral nervous system : JPNS | 2023-12-01 | PMID 37849068
Maciel Victor Augusto Zanesi, Maximiano-Alves Gustavo, Frezatti Rodrigo Siqueira Soares and 6 more
Interplay between morphology and competition in two-dimensional colony expansion.
Physical review. E | 2023-09-01 | PMID 37849094
Swartz Daniel W, Lee Hyunseok, Kardar Mehran and 1 more
Evolutionary dynamics in non-Markovian models of microbial populations.
Physical review. E | 2023-09-01 | PMID 37849168
Jafarpour Farshid, Levien Ethan, Amir Ariel
A Novel Dual-labeled Peptide for Multimodal Imaging of EGFR with L858R Mutation.
Current radiopharmaceuticals | 2024-01-01 | PMID 37849228
Kim Myoung Hyoun, Kim Seul-Gi, Kim Dae-Weung
Mis-regulation of Zn and Mn homeostasis is a key phenotype of Cu stress in Streptococcus pyogenes.
Metallomics : integrated biometal science | 2023-11-02 | PMID 37849243
Hong YoungJin, Mackenzie Eilidh S, Firth Samantha J and 4 more
Meta-Analyses of Genome-Wide Association Studies for Postpartum Depression.
The American journal of psychiatry | 2023-12-01 | PMID 37849304
Guintivano Jerry, Byrne Enda M, Kiewa Jacqueline and 75 more
Genetic overlap between ALS and other neurodegenerative or neuromuscular disorders.
Amyotrophic lateral sclerosis & frontotemporal degeneration | 2024-02-01 | PMID 37849306
Olsen Cathrine Goberg, Busk Øyvind Løvold, Holla Øystein Lunde and 4 more
Genes: NEK1, AFG3L2, ATP7A, BICD2, KIF1A, MSTO1, ATL3, HARS1
Association of Toll-like receptor 4 gene polymorphism with multiple sclerosis in Iranian patients.
Acta neurologica Taiwanica | 2024-03-30 | PMID 37849336
Jahromi Abdolreza Sotoodeh, Erfanian Saiedeh, Safavi Sobhan and 1 more
Variants in DOK7 results in fetal akinesia deformation sequence: A case report and review of literature.
Clinical genetics | 2024-02-01 | PMID 37849383
Tiwari Amit K, Srinivasan Varunvenkat M, Phadke Shubha R and 1 more
Fifty novel HLA-DPB1 alleles identified in a UK cohort of unrelated hematopoietic cell donors and recipients.
HLA | 2024-01-01 | PMID 37850248
Cambridge Charlotte A, Turner Thomas R, Georgiou Xenia and 3 more
Maternal and placental ANRIL polymorphisms and preeclampsia susceptibility.
Personalized medicine | 2023-09-01 | PMID 37850322
Asadi-Tarani Mina, Saravani Mohsen, Ghasemi Marzieh and 2 more
Regulome-wide association study identifies genetically driven accessible regions associated with pancreatic cancer risk.
International journal of cancer | 2024-02-15 | PMID 37850323
Liu Shuai, Zhong Hua, Zhu Jingjing and 3 more
Genes: TF
AICRF: ancestry inference of admixed population with deep conditional random field.
Journal of genetics | 2023-01-01 | PMID 37850385
Alizadeh Farhad, Jazayeriy Hamid, Jazayeri Omid and 1 more
Periodontal phenotype modification in orthodontic patients.
Journal of esthetic and restorative dentistry : official publication of the American Academy of Esthetic Dentistry ... [et al.] | 2024-04-01 | PMID 37850403
Kadkhodazadeh Mahdi, Amid Reza, Moscowchi Anahita and 1 more
Phenotypes and genotypes in a cohort of children with single-ventricle CHD.
Cardiology in the young | 2024-04-01 | PMID 37850440
Baker Elizabeth K, Shikany Amy, Winlaw David S and 1 more
Canalisation and plasticity on the developmental manifold of Caenorhabditis elegans.
Molecular systems biology | 2023-11-09 | PMID 37850520
Jordan David J, Miska Eric A
Identification of hepatoblastoma susceptibility loci in the TRMT6 gene from a seven-center case-control study.
Journal of cellular and molecular medicine | 2024-01-01 | PMID 37850543
Ma Lin, Zhu Jinhong, Zhang Jiao and 8 more
Novel ADAMTS13 mutations in a patient with congenital thrombotic thrombocytopenic purpura.
Hematology (Amsterdam, Netherlands) | 2023-12-01 | PMID 37850618
Wang Zhitao, Zhang Xinhui, Lu Xueqin and 4 more
Characterization of seizures and EEG findings in creatine transporter deficiency due to SLC6A8 mutation.
American journal of medical genetics. Part A | 2024-02-01 | PMID 37850681
Abdennadher Myriam, Inati Sara K, Rahhal Samar and 7 more
Surveillance for rat hepatitis E in wastewater networks, Italy.
Microbiology spectrum | 2023-12-12 | PMID 37850788
Palombieri Andrea, Di Profio Federica, Sarchese Vittorio and 8 more
Epigenetics and the evolution of form: Experimental manipulation of a chromatin modification causes species-specific changes to the craniofacial skeleton.
Evolution & development | 2024-01-01 | PMID 37850843
DeLorenzo Leah, Powder Kara E
Differential sensitivity of climate conditions on birth weight genetic values in mice divergently selected for birth weight residual variance.
Journal of animal science | 2023-01-03 | PMID 37850884
El-Ouazizi El-Kahia Laila, Formoso-Rafferty Nora, Cervantes Isabel and 1 more
Atopic dermatitis phenotypes based on cluster analysis of the Danish Skin Cohort.
The British journal of dermatology | 2024-01-23 | PMID 37850907
Nymand Lea, Nielsen Mia-Louise, Vittrup Ida and 4 more
Molecular basis of the phenotypic variants arising from a Pseudoalteromonas lipolytica mutator.
Microbial genomics | 2023-10-01 | PMID 37850970
Zeng Zhenshun, Gu Jiayu, Lin Shituan and 3 more
Genetic and clinical characteristics of primary hemophagocytic lymphohistiocytosis in children.
Annals of hematology | 2024-01-01 | PMID 37851074
Zhao Chenzi, Zhang Qing, Zhang Rui and 4 more
Effects of gene polymorphisms on delayed MTX clearance, toxicity, and metabolomic changes after HD-MTX treatment in children with acute lymphoblastic leukemia.
European journal of pediatrics | 2024-02-01 | PMID 37851084
Zhou Yao, He Haoping, Ding Luping and 5 more
Real-world routine diagnostic molecular analysis for TP53 mutational status is recommended over p53 immunohistochemistry in B-cell lymphomas.
Virchows Archiv : an international journal of pathology | 2024-10-01 | PMID 37851120
de Haan Lorraine M, de Groen Ruben A L, de Groot Fleur A and 16 more
Effects of the core heading date genes Hd1, Ghd7, DTH8, and PRR37 on yield-related traits in rice.
TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik | 2023-10-18 | PMID 37851149
Sun Kangli, Zong Wubei, Xiao Dongdong and 13 more
BRAF V600E mutation in papillary thyroid microcarcinoma: is it a predictor for the prognosis of patients with intermediate to high recurrence risk?
Endocrine | 2024-04-01 | PMID 37851243
Cao Jingjia, Chen Baojin, Zhu Xiaolu and 4 more
Genes: BRAF
Mycorrhizal status and host genotype interact to shape plant nutrition in field grown maize (Zea mays ssp. mays).
Mycorrhiza | 2023-11-01 | PMID 37851276
Li Meng, Perez-Limón Sergio, Ramírez-Flores M Rosario and 6 more
The largest genome-wide association study for breast cancer in Taiwanese Han population.
Breast cancer research and treatment | 2024-01-01 | PMID 37851288
Hsu Yu-Ching, Chen Hung-Lin, Cheng Chi-Fung and 10 more
Ethnicity-specific BRCA1, BRCA2, PALB2, and ATM pathogenic alleles in breast and ovarian cancer patients from the North Caucasus.
Breast cancer research and treatment | 2024-01-01 | PMID 37851290
Sokolenko Anna P, Bakaeva Elvina Kh, Venina Aigul R and 35 more
Marked neuropsychiatric involvement and dysmorphic features in nemaline myopathy.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology | 2024-03-01 | PMID 37851294
Nóbrega Paulo Ribeiro, de Brito de Souza Jorge Luiz, Maurício Rebeca Bessa and 7 more
High-Dose Methylphenidate and Carboxylesterase 1 Genetic Variability in Patients With Attention-Deficit/Hyperactivity Disorder: A Case Series.
Journal of clinical psychopharmacology | 2000-01-01 | PMID 37851403
Westerkamp Andrie C, Pereira Rob Rodrigues, Huitema Vera R and 6 more
Genetic Variation and Sickle Cell Disease Severity: A Systematic Review and Meta-Analysis.
JAMA network open | 2023-10-02 | PMID 37851445
Kirkham Justin K, Estepp Jeremie H, Weiss Mitch J and 1 more
Gain-of-Function p53 Mutation Acts as a Genetic Switch for TGFβ Signaling-Induced Epithelial-to-Mesenchymal Transition in Intestinal Tumors.
Cancer research | 2024-01-02 | PMID 37851521
Wang Dong, Nakayama Mizuho, Hong Chang Pyo and 2 more
Alchemical Calculation of Relative Free Energies for Charge-Changing Mutations at Protein-Protein Interfaces Considering Fixed and Variable Protonation States.
Journal of chemical information and modeling | 2023-11-13 | PMID 37851531
Hernández González Jorge Enrique, de Araujo Alexandre Suman
Somatic structural variation signatures in pediatric brain tumors.
Cell reports | 2023-10-31 | PMID 37851574
Yang Yang, Yang Lixing
The genome-wide relationships of the critically endangered Quadricorna sheep in the Mediterranean region.
PloS one | 2023-01-01 | PMID 37851594
Senczuk Gabriele, Di Civita Marika, Rillo Luigina and 9 more
New insights on Celtic migration in Hungary and Italy through the analysis of non-metric dental traits.
PloS one | 2023-01-01 | PMID 37851635
Piccirilli Erica, Sorrentino Rita, Lugli Federico and 15 more
The genetics and chronobiology of cluster headache.
Cephalalgia : an international journal of headache | 2023-10-01 | PMID 37851671
Belin Andrea Carmine, Barloese Mads Christian
Predicting ventricular tachycardia circuits in patients with arrhythmogenic right ventricular cardiomyopathy using genotype-specific heart digital twins.
eLife | 2023-10-18 | PMID 37851708
Zhang Yingnan, Zhang Kelly, Prakosa Adityo and 9 more
HLA haplotypes and differential regional mortality caused by COVID-19 in Brazil: an ecological study based on a large bone marrow donor bank dataset.
Anais da Academia Brasileira de Ciencias | 2023-01-01 | PMID 37851747
Boquett Juliano André, Vianna Fernanda S L, Fagundes Nelson J R and 9 more
Calcium pyruvate in the attenuation of the water deficit on the agro-industrial quality of ratoon sugarcane.
Brazilian journal of biology = Revista brasleira de biologia | 2023-01-01 | PMID 37851774
Dias M S, Silva F A, Fernandes P D and 9 more
High-resolution melting analysis for simultaneous detection and discrimination between wild-type and vaccine strains of feline calicivirus.
The veterinary quarterly | 2023-12-01 | PMID 37851857
Phongroop Kannika, Rattanasrisomporn Jatuporn, Tangtrongsup Sahatchai and 3 more
TP53 mutations predict for poor outcomes in patients with newly diagnosed aggressive B-cell lymphomas in the current era.
Blood advances | 2023-12-12 | PMID 37851898
Landsburg Daniel J, Morrissette Jennifer Jd, Nasta Sunita D and 5 more
Circular RNA sirtuin-1 restrains the malignant phenotype of non-small cell lung cancer cells via the microRNA-510-5p/SMAD family member 7 axis.
Acta biochimica Polonica | 2023-10-18 | PMID 37851987
Zhao ZiRan, Zhang HongYan, Zhang Fan and 4 more
Discovery of highly potent and selective KRASG12C degraders by VHL-recruiting PROTACs for the treatment of tumors with KRASG12C-Mutation.
European journal of medicinal chemistry | 2023-12-05 | PMID 37852032
Yang Ning, Fan Zhiya, Sun Shiyang and 14 more
Efficacy of olaparib in advanced cancers with germline or somatic mutations in BRCA1, BRCA2, CHEK2 and ATM, a Belgian Precision tumor-agnostic phase II study.
ESMO open | 2023-12-01 | PMID 37852034
Joris S, Denys H, Collignon J and 9 more
Pharmacokinetics and clinical efficacy of 6'-sialyllactose in patients with GNE myopathy: Randomized pilot trial.
Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie | 2023-12-01 | PMID 37852099
Park Young-Eun, Park Eunjung, Choi Jaeil and 6 more
Prognostic utility of preoperative and postoperative KRAS-mutated circulating tumor DNA (ctDNA) in resected pancreatic ductal adenocarcinoma: A systematic review and meta-analysis.
Surgical oncology | 2023-12-01 | PMID 37852124
Alqahtani Ali, Alloghbi Abdurahman, Coffin Philip and 3 more
Replenishing decoy extracellular vesicles inhibits phenotype remodeling of tissue-resident cells in inflammation-driven arthritis.
Cell reports. Medicine | 2023-10-17 | PMID 37852176
Liang Mengmeng, Wang Ke, Wei Xiaoyu and 12 more
Massively parallel functional dissection of schizophrenia-associated noncoding genetic variants.
Cell | 2023-11-09 | PMID 37852259
Rummel Christine K, Gagliardi Miriam, Ahmad Ruhel and 14 more
A Korean family with RHD*DNT only detectable after anti-D alloimmunization.
American journal of clinical pathology | 2024-02-01 | PMID 37852281
Shin Dong Woo, Lee Gun-Hyuk, Kim Hanah and 4 more
Genes: RHD
Blood exosome sensing via neuronal insulin-like growth factor-1 regulates autism-related phenotypes.
Pharmacological research | 2023-11-01 | PMID 37852341
Chen Lei, Xiong Xi-Yue, Yao Tong-Tong and 4 more
The food safety assessment of all-female common carp (Cyprinus carpio) (cyp17a1+/-;XX genotype) generated using genome editing technology.
Food and chemical toxicology : an international journal published for the British Industrial Biological Research Association | 2023-11-01 | PMID 37852353
Chen Guanghui, Huang Jianfei, Jia Jingyi and 12 more
Effects of Fmr1 Gene Mutations on Sex Differences in Autism-Like Behavior and Dendritic Spine Development in Mice and Transcriptomic Studies.
Neuroscience | 2023-12-01 | PMID 37852411
Wang Zhao, Qiao Dan, Chen Huan and 8 more
CCDC66 mutations are associated with high myopia through affected cell mitosis.
Journal of medical genetics | 2024-02-21 | PMID 37852749
Chen Xiaozhen, Tong Ping, Jiang Ying and 7 more
Global burden of new-onset hypertension associated with severe acute respiratory syndrome coronavirus 2 infection.
European journal of internal medicine | 2024-01-01 | PMID 37852842
Angeli Fabio, Zappa Martina, Verdecchia Paolo
Genes: ACE2
Progress of epigenetic modification of SATB2 gene in the pathogenesis of non-syndromic cleft lip and palate.
Asian journal of surgery | 2024-01-01 | PMID 37852859
Ma Yang, Liu Hangyu, Shi Lungang
On developmental programming of the immune system.
Trends in immunology | 2023-11-01 | PMID 37852863
Hong Jun Young, Medzhitov Ruslan
The implications of satellite DNA instability on cellular function and evolution.
Seminars in cell & developmental biology | 2024-03-15 | PMID 37852904
Flynn Jullien M, Yamashita Yukiko M
Analysis of clinical characteristics and treatment efficacy in two pediatric cases of ANKRD26-related thrombocytopenia.
Platelets | 2023-12-01 | PMID 37852929
Pang Congfei, Wu Xiaomei, Nikuze Lauriane and 1 more
Clinical utility of polygenic scores for cardiometabolic disease in Arabs.
Nature communications | 2023-10-18 | PMID 37852978
Shim Injeong, Kuwahara Hiroyuki, Chen NingNing and 10 more
Metabolic fingerprinting on retinal pigment epithelium thickness for individualized risk stratification of type 2 diabetes mellitus.
Nature communications | 2023-10-18 | PMID 37852995
Yang Shaopeng, Zhu Zhuoting, Chen Shida and 3 more
Genomic findings in schizophrenia and their implications.
Molecular psychiatry | 2023-09-01 | PMID 37853064
Owen Michael J, Legge Sophie E, Rees Elliott and 2 more
In vitro assessment of physiological traits and ROS detoxification pathways involved in tolerance of Damask rose genotypes under salt stress.
Scientific reports | 2023-10-18 | PMID 37853072
Azizi Sahar, Seyed Hajizadeh Hanifeh, Aghaee Ahmad and 1 more
Correlation analysis of obesity phenotypes with leptin and adiponectin.
Scientific reports | 2023-10-18 | PMID 37853077
Aisike Guliqiekeran, Kuerbanjiang Maierheba, Muheyati Dina and 3 more
Caregiver's cognitive traits are associated with pup fitness in a cooperatively breeding mammal.
Scientific reports | 2023-10-18 | PMID 37853079
Shelafoe C, Thompson F J, Mwanguhya F and 7 more
The episodic resurgence of highly pathogenic avian influenza H5 virus.
Nature | 2023-10-01 | PMID 37853121
Xie Ruopeng, Edwards Kimberly M, Wille Michelle and 9 more
CANVAS-related RFC1 mutations in patients with immune-mediated neuropathy.
Scientific reports | 2023-10-18 | PMID 37853169
Hirano Makito, Kuwahara Motoi, Yamagishi Yuko and 12 more
Usefulness of genotyping APC gene for individualizing management of patients with familial adenomatous polyposis.
International journal of clinical oncology | 2023-12-01 | PMID 37853284
Mori Yoshiko, Ishida Hideyuki, Chika Noriyasu and 17 more
KIBRA single nucleotide polymorphism is associated with hippocampal subfield volumes and cognition across development.
Brain structure & function | 2024-01-01 | PMID 37853296
Homayouni Roya, Daugherty Ana M, Yu Qijing and 2 more
Development of a novel panel for blood identification based on blood-specific CpG-linked SNP markers.
International journal of legal medicine | 2024-05-01 | PMID 37853302
Li Zeqin, Liu Na, Yuan Fang and 6 more
Genomic prediction based on selective linkage disequilibrium pruning of low-coverage whole-genome sequence variants in a pure Duroc population.
Genetics, selection, evolution : GSE | 2023-10-18 | PMID 37853325
Zhu Di, Zhao Yiqiang, Zhang Ran and 5 more
Molecular surveillance and genetic diversity of Anaplasma spp. in cattle (Bos taurus) and goat (Capra aegagrus hircus) from Hainan island/province, China.
BMC veterinary research | 2023-10-18 | PMID 37853405
Zhou Sa, Huang Liangyuan, Lin Yang and 6 more
Causal relationships between blood lipids and major psychiatric disorders: Univariable and multivariable mendelian randomization analysis.
BMC medical genomics | 2023-10-18 | PMID 37853421
Li Bozhi, Qu Yue, Fan Zhixin and 4 more
Screening and verifying the mutations in the LDLR and APOB genes in a Chinese family with familial hypercholesterolemia.
Lipids in health and disease | 2023-10-18 | PMID 37853441
Lv Xian, Wang Chunyue, Liu Lu and 6 more
NF-κB signaling in neoplastic transition from epithelial to mesenchymal phenotype.
Cell communication and signaling : CCS | 2023-10-18 | PMID 37853467
Oh Amy, Pardo Makayla, Rodriguez Anaelena and 5 more
BRAF D594A mutation defines a unique biological and immuno-modulatory subgroup associated with functional CD8+ T cell infiltration in colorectal cancer.
Journal of translational medicine | 2023-10-18 | PMID 37853469
Li Wenjing, Zhao Chenyi, Li Wenhui and 6 more
How the switch to hummingbird pollination has greatly contributed to our understanding of evolutionary processes.
The New phytologist | 2024-01-01 | PMID 37853523
Wessinger Carolyn A
The best of both worlds: Blending cutting-edge research with clinical processes for a productive exome clinic.
Clinical genetics | 2024-01-01 | PMID 37853563
Sullivan Jennifer A, Spillmann Rebecca C, Schoch Kelly and 8 more
Repeated local ellipsoid protrusion supplements HLA surface characterization.
HLA | 2024-01-01 | PMID 37853578
Niemann Matthias, Matern Benedict M, Spierings Eric
The novel HLA-C allele, HLA-C*01:02:84 allele, identified in a solid organ transplantation donor.
HLA | 2024-01-01 | PMID 37853599
Yang Jin Hyuk, Yang John Jeongseok, Oh Heung-Bum
Characterization of the novel HLA-DRB1*10:38 allele, showing an extended cytoplasmic tail.
HLA | 2024-01-01 | PMID 37853624
Balas Antonio, Sanchez-Gordo Francisco, Moreno-Hidalgo Miguel-Ángel and 2 more
Identification of Cell Type-Specific Effects of DNMT3A Mutations on Relapse in Acute Myeloid Leukemia.
Molecules and cells | 2023-10-31 | PMID 37853686
Bae Seo-Gyeong, Kim Hyeoung-Joon, Kim Mi Yeon and 4 more
Association of IL-6 rs1800795, but not TNF-α rs1800629, and IL-1β rs16944 polymorphisms' genotypes with recovery of ischemic stroke patients following thrombolysis.
Neurological research | 2024-02-01 | PMID 37853768
Dusanovic Pjevic Marija, Vojvodic Ljubica, Grk Milka and 8 more
Evaluation of toll-like receptors 2 and 4 polymorphism and intestinal microbiota in children with food allergies.
The Turkish journal of pediatrics | 2023-01-01 | PMID 37853967
Kılıç Mehmet, Beyazıt Elif, Önalan Ebru Etem and 2 more
Compound heterozygous mutations in the helicase RTEL1 causing Hoyeraal-Hreidarsson syndrome with Blake`s pouch cyst: a case report.
The Turkish journal of pediatrics | 2023-01-01 | PMID 37853975
He Min, Lian GuoLi, Hu HaiPeng and 2 more
Cinacalcet therapy in a child with novel homozygous CASR p.Glu353Lys mutation causing familial hypocalciuric hypercalcemia type 1: case report and review of the literature.
The Turkish journal of pediatrics | 2023-01-01 | PMID 37853976
Koca Serkan Bilge
An atypical case of incontinentia pigmenti with a hypomorphic variant.
Pediatric dermatology | 2000-01-01 | PMID 37853991
Guo Youming, Bu Wenbo, Jia Weixue and 2 more