Associations of the IL-1B level, IL-1A and IL-1B gene polymorphisms and ankylosing spondylitis risk in a Chinese Han population.
Cytokine | 2020-02-01 | PMID 31726259
Liu Weixi, Yang Zhicheng, Yan Ting and 2 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 7946 of 10600
Patterns of neurological manifestations in Woodhouse-Sakati Syndrome.
Parkinsonism & related disorders | 2019-12-01 | PMID 31726291
Bohlega Saeed, Abusrair Ali H, Al-Ajlan Fahad S and 5 more
Multilocus analysis reveals further genetic differences between Tritrichomonas foetus from cats and cattle.
Veterinary parasitology | 2019-12-01 | PMID 31726324
Pedraza-Díaz Susana, Arranz-Solís David, Gómez-Couso Hipólito and 6 more
Next generation sequencing for GNAS uncovers CD34 as a sensitive marker for intramuscular myxoma.
Annals of diagnostic pathology | 2019-12-01 | PMID 31726379
Libbrecht Louis, Bempt Isabelle Vanden, Schubert Thomas and 2 more
Sex-specific cardiac phenotype and clinical outcomes in patients with hypertrophic cardiomyopathy.
American heart journal | 2020-01-01 | PMID 31726421
Lu Dai-Yin, Ventoulis Ioannis, Liu Hongyun and 10 more
Clinical and Genetic Characterization of a Constitutional Delay of Growth and Puberty Cohort.
Neuroendocrinology | 2020-01-01 | PMID 31726455
Barroso Priscila Sales, Jorge Alexander Augusto Lima, Lerario Antonio Marcondes and 6 more
Identifying degradation products responsible for increased toxicity of UV-Degraded insensitive munitions.
Chemosphere | 2020-02-01 | PMID 31726587
Moores Lee C, Kennedy Alan J, May Lauren and 6 more
CRISPR/Cas9-Mediated Multiplex Genome Editing of JAGGED Gene in Brassica napus L.
Biomolecules | 2019-11-12 | PMID 31726660
Zaman Qamar U, Chu Wen, Hao Mengyu and 8 more
A Weighted Genomic Relationship Matrix Based on Fixation Index (FST) Prioritized SNPs for Genomic Selection.
Genes | 2019-11-12 | PMID 31726712
Chang Ling-Yun, Toghiani Sajjad, Hay El Hamidi and 2 more
RNA Splicing Factor Mutations That Cause Retinitis Pigmentosa Result in Circadian Dysregulation.
Journal of biological rhythms | 2020-02-01 | PMID 31726916
Shakhmantsir Iryna, Dooley Scott J, Kishore Siddharth and 4 more
Efficacy of Clopidogrel-Aspirin Therapy for Stroke Does Not Exist in CYP2C19 Loss-of-Function Allele Noncarriers With Overweight/Obesity.
Stroke | 2020-01-01 | PMID 31726963
Mo Jinglin, Chen Zimo, Xu Jie and 6 more
Association of radiation risk in the second and third generations with polymorphisms in the genes CYP1A1, CYP2E1, GSTP1 and changes in the thyroid.
Molecular medicine (Cambridge, Mass.) | 2019-11-14 | PMID 31726965
Massabayeva Meruyert, Chaizhunusova Nailya, Aukenov Nurlan and 4 more
Mouse APOBEC1 cytidine deaminase can induce somatic mutations in chromosomal DNA.
BMC genomics | 2019-11-14 | PMID 31726973
Caval Vincent, Jiao Wenjuan, Berry Noémie and 6 more
Construction of the first high-density genetic linkage map and identification of seed yield-related QTLs and candidate genes in Elymus sibiricus, an important forage grass in Qinghai-Tibet Plateau.
BMC genomics | 2019-11-14 | PMID 31726988
Zhang Zongyu, Xie Wengang, Zhang Junchao and 4 more
Stability of petal color polymorphism: the significance of anthocyanin accumulation in photosynthetic tissues.
BMC plant biology | 2019-11-14 | PMID 31726989
Del Valle José Carlos, Alcalde-Eon Cristina, Escribano-Bailón Mª Teresa and 3 more
Transcriptome analysis of Aspergillus niger xlnR and xkiA mutants grown on corn Stover and soybean hulls reveals a highly complex regulatory network.
BMC genomics | 2019-11-14 | PMID 31726994
Khosravi Claire, Kowalczyk Joanna E, Chroumpi Tania and 10 more
Increased risk of aspirin-induced gastric mucosal erosion in elderly Chinese men harboring SLCO1B1*1b/*1b while using aspirin and an ACEI or ARB concomitantly.
BMC medical genetics | 2019-11-14 | PMID 31727004
Duan Lei, Bai Yongyi, Li Man and 3 more
Circulating tumour DNA (ctDNA) as a biomarker in metachronous melanoma and colorectal cancer- a case report.
BMC cancer | 2019-11-14 | PMID 31727009
Calapre Leslie, Warburton Lydia, Millward Michael and 1 more
Characterizing MRI features of rectal cancers with different KRAS status.
BMC cancer | 2019-11-14 | PMID 31727020
Xu Yanyan, Xu Qiaoyu, Ma Yanhui and 8 more
MicroRNA-124-3p suppresses mouse lip mesenchymal cell proliferation through the regulation of genes associated with cleft lip in the mouse.
BMC genomics | 2019-11-14 | PMID 31727022
Suzuki Akiko, Yoshioka Hiroki, Summakia Dima and 8 more
Targeting of tolerogenic dendritic cells to heat-shock proteins in inflammatory arthritis.
Journal of translational medicine | 2019-11-14 | PMID 31727095
Spiering Rachel, Jansen Manon A A, Wood Matthew J and 8 more
Association between DLA-DRB1.2 allelic diversity and development of mammary gland tumors in dogs.
Acta veterinaria Scandinavica | 2019-11-14 | PMID 31727096
Vahedi Seyed Milad, Nikbakht Gholamreza, Jamshidi Shahram and 3 more
The 164 K, 165 K, and 167 K residues of VP1 are vital for goose parvovirus proliferation in GEFs based on PCR-based reverse genetics system.
Virology journal | 2019-11-14 | PMID 31727103
Liu Peng, Yang Liqin, Zhang Jingyue and 16 more
Compound heterozygous LPIN2 pathogenic variants in a patient with Majeed syndrome with recurrent fever and severe neutropenia: case report.
BMC medical genetics | 2019-11-14 | PMID 31727123
Liu Jun, Hu Xu-Yun, Zhao Zhi-Peng and 5 more
Novel risk genes and mechanisms implicated by exome sequencing of 2572 individuals with pulmonary arterial hypertension.
Genome medicine | 2019-11-14 | PMID 31727138
Zhu Na, Pauciulo Michael W, Welch Carrie L and 10 more
Thioredoxin peroxidase secreted by Echinococcus granulosus (sensu stricto) promotes the alternative activation of macrophages via PI3K/AKT/mTOR pathway.
Parasites & vectors | 2019-11-14 | PMID 31727141
Wang Hui, Zhang Chuan-Shan, Fang Bin-Bin and 7 more
A systematic review of natural killer cells profile and cytotoxic function in myalgic encephalomyelitis/chronic fatigue syndrome.
Systematic reviews | 2019-11-14 | PMID 31727160
Eaton-Fitch Natalie, du Preez Stanley, Cabanas Hélène and 2 more
Kabuki syndrome: novel pathogenic variants, new phenotypes and review of literature.
Orphanet journal of rare diseases | 2019-11-14 | PMID 31727177
Shangguan Huakun, Su Chang, Ouyang Qian and 4 more
Genotypic diversity of Streptococcus suis and the S. suis-like bacterium Streptococcus ruminantium in ruminants.
Veterinary research | 2019-11-14 | PMID 31727180
Okura Masatoshi, Maruyama Fumito, Ota Atsushi and 9 more
Genetic characterization of Toxoplasma gondii in Iranian HIV positive patients using multilocus nested-PCR-RFLP method.
Parasitology | 2020-03-01 | PMID 31727203
Hosseini Seyed Abdollah, Sharif Mehdi, Sarvi Shahabeddin and 10 more
Detection of circulating tumor DNA (ctDNA) by digital droplet polymerase chain reaction (dd-PCR) in liquid biopsies.
Methods in enzymology | 2019-01-01 | PMID 31727235
Valpione Sara, Campana Luca
Predictive markers of long-term recurrence in chronic rhinosinusitis with nasal polyps.
American journal of otolaryngology | 2000-01-01 | PMID 31727332
Rosati Davide, Rosato Chiara, Pagliuca Giulio and 5 more
Mechanism of the salt activation of laccase Lac15.
Biochemical and biophysical research communications | 2020-01-22 | PMID 31727364
Li Zhi, Jiang Sha, Xie Yanan and 4 more
Random insertion transposon mutagenesis of Mycobacterium fortuitum identified mutant defective in biofilm formation.
Biochemical and biophysical research communications | 2020-01-22 | PMID 31727369
Katoch Poonam, Gupta Kinam, Yennamalli Ragothaman M and 3 more
Glycosylation is a novel TGFβ1-independent post-translational modification of Smad2.
Biochemical and biophysical research communications | 2020-01-22 | PMID 31727370
Gotoh Takaya, Iwahana Hiroyuki, Kannan Surya and 4 more
Proof-of-concept study of a multi-gene risk score in adolescent bipolar disorder.
Journal of affective disorders | 2020-02-01 | PMID 31727397
Dimick Mikaela K, Cazes Jaime, Fiksenbaum Lisa M and 6 more
Rare Genetic Variants Associated With Sudden Cardiac Death in Adults.
Journal of the American College of Cardiology | 2019-11-26 | PMID 31727422
Khera Amit V, Mason-Suares Heather, Brockman Deanna and 24 more
Premature aging syndromes: From patients to mechanism.
Journal of dermatological science | 2019-11-01 | PMID 31727429
Foo Mattheus Xing Rong, Ong Peh Fern, Dreesen Oliver
Modification of the risk of post-traumatic stress disorder (PTSD) by the 5-HTTLPR polymorphisms after Lorca's earthquakes (Murcia, Spain).
Psychiatry research | 2019-12-01 | PMID 31727442
Navarro-Mateu Fernando, Escámez Teresa, Quesada M Paz and 9 more
Novel ATAD3A recessive mutation associated to fatal cerebellar hypoplasia with multiorgan involvement and mitochondrial structural abnormalities.
Molecular genetics and metabolism | 2019-12-01 | PMID 31727539
Peralta Susana, González-Quintana Adrián, Ybarra Marta and 7 more
Relationships between plasma lactate, plasma alanine, genetic variations in lactate transporters and type 2 diabetes in the Japanese population.
Drug metabolism and pharmacokinetics | 2020-02-01 | PMID 31727576
Higuchi Issei, Kimura Yuki, Kobayashi Masaki and 7 more
Whole Genome Analysis of a Single Scottish Deerhound Dog Family Provides Independent Corroboration That a SGK3 Coding Variant Leads to Hairlessness.
G3 (Bethesda, Md.) | 2020-01-07 | PMID 31727632
Parker Heidi G, Whitaker D Thad, Harris Alexander C and 1 more
miR-541 potentiates the response of human hepatocellular carcinoma to sorafenib treatment by inhibiting autophagy.
Gut | 2020-07-01 | PMID 31727683
Xu Wen-Ping, Liu Jin-Pei, Feng Ji-Feng and 10 more
Hepatitis E virus replication in human intestinal cells.
Gut | 2020-05-01 | PMID 31727684
Marion Olivier, Lhomme Sebastien, Nayrac Manon and 11 more
A Potent Blood-Brain Barrier-Permeable Mutant IDH1 Inhibitor Suppresses the Growth of Glioblastoma with IDH1 Mutation in a Patient-Derived Orthotopic Xenograft Model.
Molecular cancer therapeutics | 2020-02-01 | PMID 31727689
Machida Yukino, Nakagawa Makoto, Matsunaga Hironori and 18 more
Quorum sensing-dependent post-secretional activation of extracellular proteases in Pseudomonas aeruginosa.
The Journal of biological chemistry | 2019-12-20 | PMID 31727738
Li Xi-Hui, Lee Joon-Hee
Human NORs, comprising rDNA arrays and functionally conserved distal elements, are located within dynamic chromosomal regions.
Genes & development | 2019-12-01 | PMID 31727772
van Sluis Marjolein, Gailín Michael Ó, McCarter Joseph G W and 3 more
A calcium message for Niemann-Pick type C.
The Journal of cell biology | 2019-12-02 | PMID 31727775
Cologna Stephanie M
AvrRpm1 Functions as an ADP-Ribosyl Transferase to Modify NOI Domain-Containing Proteins, Including Arabidopsis and Soybean RPM1-Interacting Protein4.
The Plant cell | 2019-11-01 | PMID 31727786
Redditt Thomas J, Chung Eui-Hwan, Karimi Hana Zand and 9 more
Cellular RNA surveillance in health and disease.
Science (New York, N.Y.) | 2019-11-15 | PMID 31727827
Wolin Sandra L, Maquat Lynne E
A high-affinity human PD-1/PD-L2 complex informs avenues for small-molecule immune checkpoint drug discovery.
Proceedings of the National Academy of Sciences of the United States of America | 2019-12-03 | PMID 31727844
Tang Shaogeng, Kim Peter S
A model for reticular dysgenesis shows impaired sensory organ development and hair cell regeneration linked to cellular stress.
Disease models & mechanisms | 2019-12-20 | PMID 31727854
Rissone Alberto, Jimenez Erin, Bishop Kevin and 6 more
TTC5 mediates autoregulation of tubulin via mRNA degradation.
Science (New York, N.Y.) | 2020-01-03 | PMID 31727855
Lin Zhewang, Gasic Ivana, Chandrasekaran Viswanathan and 4 more
Brain cell type-specific enhancer-promoter interactome maps and disease-risk association.
Science (New York, N.Y.) | 2019-11-29 | PMID 31727856
Nott Alexi, Holtman Inge R, Coufal Nicole G and 23 more
Schizophrenia polygenic risk score and 20-year course of illness in psychotic disorders.
Translational psychiatry | 2019-11-14 | PMID 31727878
Jonas Katherine G, Lencz Todd, Li Kaiqiao and 5 more
The wax gourd genomes offer insights into the genetic diversity and ancestral cucurbit karyotype.
Nature communications | 2019-11-14 | PMID 31727887
Xie Dasen, Xu Yuanchao, Wang Jinpeng and 15 more
Chemokine receptor trafficking coordinates neutrophil clustering and dispersal at wounds in zebrafish.
Nature communications | 2019-11-14 | PMID 31727891
Coombs Caroline, Georgantzoglou Antonios, Walker Hazel A and 8 more
Elevated aldosterone and blood pressure in a mouse model of familial hyperaldosteronism with ClC-2 mutation.
Nature communications | 2019-11-14 | PMID 31727896
Schewe Julia, Seidel Eric, Forslund Sofia and 6 more
Complex life histories discovered in a critically endangered fish.
Scientific reports | 2019-11-14 | PMID 31727901
Hobbs James A, Lewis Levi S, Willmes Malte and 2 more
The effect of liver enzymes on adiposity: a Mendelian randomization study.
Scientific reports | 2019-11-14 | PMID 31727910
Liu Junxi, Au Yeung Shiu Lun, Kwok Man Ki and 5 more
An evaluation of the SureID 23comp Human Identification Kit for kinship testing.
Scientific reports | 2019-11-14 | PMID 31727926
Alsafiah Hussain M, Aljanabi Ali A, Hadi Sibte and 2 more
Disrupting coupling within mycobacterial F-ATP synthases subunit ε causes dysregulated energy production and cell wall biosynthesis.
Scientific reports | 2019-11-14 | PMID 31727946
Saw Wuan-Geok, Wu Mu-Lu, Ragunathan Priya and 11 more
Improved power and precision with whole genome sequencing data in genome-wide association studies of inflammatory biomarkers.
Scientific reports | 2019-11-14 | PMID 31727947
Höglund Julia, Rafati Nima, Rask-Andersen Mathias and 4 more
A pore-occluding phenylalanine gate prevents ion slippage through plant ammonium transporters.
Scientific reports | 2019-11-14 | PMID 31727964
Ganz Pascal, Mink Robin, Ijato Toyosi and 3 more
Genetic diversity of Nile tilapia (Oreochromis niloticus) throughout West Africa.
Scientific reports | 2019-11-14 | PMID 31727970
Lind Curtis E, Agyakwah Seth K, Attipoe Felix Y and 3 more
Functional and topographic effects on DNA methylation in IDH1/2 mutant cancers.
Scientific reports | 2019-11-14 | PMID 31727977
Bledea Ramona, Vasudevaraja Varshini, Patel Seema and 18 more
Genes: IDH1
Limit cycle dynamics can guide the evolution of gene regulatory networks towards point attractors.
Scientific reports | 2019-11-14 | PMID 31727996
Wilson Stuart P, James Sebastian S, Whiteley Daniel J and 1 more
Brain surgery in combination with tyrosine kinase inhibitor and whole brain radiotherapy for epidermal growth factor receptor-mutant non-small-cell lung cancer with brain metastases.
Scientific reports | 2019-11-14 | PMID 31728013
Lee Hsin-Hua, Chen Chien-Hung, Chuang Hung-Yi and 2 more
Ubiquitylation and endocytosis of the human LAT1/SLC7A5 amino acid transporter.
Scientific reports | 2019-11-14 | PMID 31728037
Barthelemy Céline, André Bruno
Dendritic cells license regulatory B cells to produce IL-10 and mediate suppression of antigen-specific CD8 T cells.
Cellular & molecular immunology | 2020-08-01 | PMID 31728048
Boldison Joanne, Da Rosa Larissa Camargo, Davies Joanne and 2 more
Hypoxia-inducible factor 1 (HIF-1) is a new therapeutic target in JAK2V617F-positive myeloproliferative neoplasms.
Leukemia | 2020-04-01 | PMID 31728053
Baumeister Julian, Chatain Nicolas, Hubrich Annika and 14 more
Awareness and Attitude Towards the Premarital Screening Programme Among High School Students in Muscat, Oman.
Sultan Qaboos University medical journal | 2019-08-01 | PMID 31728219
Al-Kindi Rahma M, Kannekanti Saraswathi, Natarajan Jansi and 3 more
Genetic association between IL23R rs11209026 and rs10889677 polymorphisms and risk of Crohn's disease and ulcerative colitis: evidence from 41 studies.
Inflammation research : official journal of the European Histamine Research Society ... [et al.] | 2020-01-01 | PMID 31728561
Zhu Yi, Jiang HongGang, Chen ZhiHeng and 3 more
Genome-based breeding approaches in major vegetable crops.
TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik | 2020-05-01 | PMID 31728564
Hao Ning, Han Deguo, Huang Ke and 5 more
Plasma ascorbic acid and the risk of islet autoimmunity and type 1 diabetes: the TEDDY study.
Diabetologia | 2020-02-01 | PMID 31728565
Mattila Markus, Erlund Iris, Lee Hye-Seung and 14 more
Cellular secretion and cytotoxicity of transthyretin mutant proteins underlie late-onset amyloidosis and neurodegeneration.
Cellular and molecular life sciences : CMLS | 2020-04-01 | PMID 31728576
Ibrahim Ridwan Babatunde, Yeh Ssu-Yu, Lin Kon-Ping and 5 more
Value of pre-therapy 18F-FDG PET/CT radiomics in predicting EGFR mutation status in patients with non-small cell lung cancer.
European journal of nuclear medicine and molecular imaging | 2020-05-01 | PMID 31728587
Zhang Jianyuan, Zhao Xinming, Zhao Yan and 6 more
Mutation-driven epigenetic alterations as a defining hallmark of central cartilaginous tumours, giant cell tumour of bone and chondroblastoma.
Virchows Archiv : an international journal of pathology | 2020-01-01 | PMID 31728625
Venneker Sanne, Szuhai Karoly, Hogendoorn Pancras C W and 1 more
Chronic Myelomonocytic Leukemia: Insights into Biology, Prognostic Factors, and Treatment.
Current oncology reports | 2019-11-14 | PMID 31728739
Coltro Giacomo, Patnaik Mrinal M
Evolutionary engineering and molecular characterization of a caffeine-resistant Saccharomyces cerevisiae strain.
World journal of microbiology & biotechnology | 2019-11-14 | PMID 31728740
Sürmeli Yusuf, Holyavkin Can, Topaloğlu Alican and 3 more
Characterization and comprehensive analysis of the ecological interaction networks of bacterial communities in Paullinia cupana var. sorbilis by 16S rRNA gene metabarcoding.
World journal of microbiology & biotechnology | 2019-11-14 | PMID 31728757
Liotti Rhavena Graziela, da Silva Rafael Correia, Pinheiro Daniel Guariz and 4 more
Association of Regulatory Genetic Variants for Protein Kinase Cα with Mortality and Drug Efficacy in Patients with Heart Failure.
Cardiovascular drugs and therapy | 2019-12-01 | PMID 31728800
Luzum Jasmine A, Ting Christopher, Peterson Edward L and 7 more
SATB2 and NGR1: potential upstream regulatory factors in uterine leiomyomas.
Journal of assisted reproduction and genetics | 2019-11-01 | PMID 31728810
Sato Shun, Maekawa Ryo, Tamura Isao and 6 more
A role for SUMOylation in the Formation and Cellular Localization of TDP-43 Aggregates in Amyotrophic Lateral Sclerosis.
Molecular neurobiology | 2020-03-01 | PMID 31728929
Maurel Cindy, Chami Anna A, Thépault Rose-Anne and 5 more
Phylogenetic analysis revealed that Salmonella Typhimurium ST313 isolated from humans and food in Brazil presented a high genomic similarity.
Brazilian journal of microbiology : [publication of the Brazilian Society for Microbiology] | 2020-03-01 | PMID 31728978
Seribelli Amanda Ap, Gonzales Júlia C, de Almeida Fernanda and 6 more
Neutrophil Defects and Diagnosis Disorders of Neutrophil Function: An Overview.
Methods in molecular biology (Clifton, N.J.) | 2020-01-01 | PMID 31728980
Dinauer Mary C
Mucinous adenocarcinoma of the colon and rectum: A genomic analysis.
Journal of surgical oncology | 2019-12-01 | PMID 31729037
Reynolds Ian S, O'Connell Emer, Fichtner Michael and 5 more
MiRNAs as biomarkers of phenotype in neutral lipid storage disease with myopathy.
Muscle & nerve | 2020-02-01 | PMID 31729045
Pegoraro Valentina, Missaglia Sara, Marozzo Roberta and 2 more
Detection of homozygous genotypes for a putatively lethal recessive mutation in the porcine argininosuccinate synthase 1 (ASS1) gene.
Animal genetics | 2020-02-01 | PMID 31729055
Mármol-Sánchez E, Luigi-Sierra M G, Quintanilla R and 1 more
DNA repair functional analyses of NBN hypomorphic variants associated with NBN-related infertility.
Human mutation | 2020-03-01 | PMID 31729086
Fiévet Alice, Bellanger Dorine, Zahed Laila and 9 more
A new NOTCH3 damaging variant in a thrombocytopenia family of Miao ethnic group.
The journal of gene medicine | 2019-11-01 | PMID 31729093
Zhao Yingling, Li Juheng
Knowledge and opinions regarding BRCA1 and BRCA2 genetic testing among primary care physicians.
Journal of genetic counseling | 2020-02-01 | PMID 31729099
Dekanek Erin W, Thull Darcy L, Massart Mylynda and 3 more
TP53 alterations in relapsed childhood acute lymphoblastic leukemia.
Cancer science | 2020-01-01 | PMID 31729120
Yu Chih-Hsiang, Chang Wan-Ting, Jou Shiann-Tarng and 14 more
Clinical and neurocognitive issues associated with Bosch-Boonstra-Schaaf optic atrophy syndrome: A case study.
American journal of medical genetics. Part A | 2020-01-01 | PMID 31729143
Bojanek Erin K, Mosconi Matthew W, Guter Stephen and 3 more
A WRKY transcription factor confers aluminum tolerance via regulation of cell wall modifying genes.
Journal of integrative plant biology | 2020-08-01 | PMID 31729146
Li Chun Xiao, Yan Jing Ying, Ren Jiang Yuan and 5 more
Okur-Chung neurodevelopmental syndrome in a patient from Spain.
American journal of medical genetics. Part A | 2020-01-01 | PMID 31729156
Martinez-Monseny Antonio F, Casas-Alba Dídac, Arjona César and 8 more
Diagnostic test accuracy of self-reported screening instruments in identifying frailty in community-dwelling older people: A systematic review.
Geriatrics & gerontology international | 2020-01-01 | PMID 31729157
Ambagtsheer Rachel C, Thompson Mark Q, Archibald Mandy M and 2 more
CHARGE syndrome in nine patients from China.
American journal of medical genetics. Part A | 2020-01-01 | PMID 31729160
Cheng Shirley S W, Luk Ho-Ming, Chan David K H and 1 more
Growth hormone deficiency in megalencephaly-capillary malformation syndrome: An association with activating mutations in PIK3CA.
American journal of medical genetics. Part A | 2020-01-01 | PMID 31729162
Davis Shanlee, Ware Meredith A, Zeiger Jordan and 13 more
Delayed appearance of 3-methylglutaconic aciduria in neonates with early onset metabolic cardiomyopathies: A potential pitfall for the diagnosis.
American journal of medical genetics. Part A | 2020-01-01 | PMID 31729175
Baban Anwar, Adorisio Rachele, Corica Bernadette and 11 more