المؤلفون: Safeer Ahmad, Mari Muurinen, Petra Loid, Muhammad Zeeshan Ali, Muhammad Muzammal, Sana Fatima, Jabbar Khan, Muzammil Ahmad Khan, Outi Mäkitie

المصدر: Bone Reports, Vol 22, Iss , Pp 101789- (2024)

مصطلحات موضوعية: MONA, Osteolysis, MMP2, Pakistani family, Molecular & in silico analysis, Diseases of the musculoskeletal system, RC925-935

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2352187224000561; https://doaj.org/toc/2352-1872

URL الوصول: https://doaj.org/article/30d7256302c3454a8782361997028522

المؤلفون: Tayyaba Ishaq, Petra Loid, Hafiza Abida Ishaq, Go Hun Seo, Outi Mäkitie, Sadaf Naz

المصدر: BMC Musculoskeletal Disorders, Vol 24, Iss 1, Pp 1-11 (2023)

مصطلحات موضوعية: Exome sequencing, Pakistan, Finland, Skeletal deformities, Nodulosis, Arthropathy, Diseases of the musculoskeletal system, RC925-935

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2474

URL الوصول: https://doaj.org/article/a34734d47874464f97360383e2bdca7e

المؤلفون: Petra Loid, Marita Lipsanen-Nyman, Sirpa Ala-Mello, Katariina Hannula-Jouppi, Juha Kere, Outi Mäkitie, Mari Muurinen

المصدر: Frontiers in Pediatrics, Vol 10 (2022)

مصطلحات موضوعية: IGF2, short stature, Silver-Russell, intrauterine growth restriction, exome sequencing, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2022.969881/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/e3e133433f194e798879a7feaf14e577

المؤلفون: Petra Loid, Helena Hauta-alus, Outi Mäkitie, Per Magnusson, Riikka E. Mäkitie

المصدر: Frontiers in Endocrinology, Vol 13 (2022)

مصطلحات موضوعية: lipocalin-2, monogenic osteoporosis, bone biomarkers, FGF23, PLS3, WNT1, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fendo.2022.954730/full; https://doaj.org/toc/1664-2392

URL الوصول: https://doaj.org/article/84475e179ce748518ccbe12148c9bc4f

المؤلفون: Safeer Ahmad, Muhammad Zeeshan Ali, Muhammad Muzammal, Amjad Ullah Khan, Muhammad Ikram, Mari Muurinen, Shabir Hussain, Petra Loid, Muzammil Ahmad Khan, Outi Mäkitie

المصدر: Genes, Vol 14, Iss 4, p 869 (2023)

مصطلحات موضوعية: polydactyly, KIAA0825, GLI1, Pakistani, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2073-4425/14/4/869; https://doaj.org/toc/2073-4425

URL الوصول: https://doaj.org/article/1f55b4d719bd4f59ae5a025b1a930381

المؤلفون: Petra Loid, Minna Pekkinen, Taina Mustila, Päivi Tossavainen, Heli Viljakainen, Anna Lindstrand, Outi Mäkitie

المصدر: Frontiers in Genetics, Vol 13 (2022)

مصطلحات موضوعية: childhood obesity, gene panel, rare variants, candidate genes, copy number variants, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.839349/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/72d24152912f44dc865477d7d0f67917

المؤلفون: Petra Loid, Minna Pekkinen, Monica Reyes, Taina Mustila, Heli Viljakainen, Harald Jüppner, Outi Mäkitie

المصدر: Frontiers in Pediatrics, Vol 8 (2020)

مصطلحات موضوعية: GNAS, G protein-cAMP-signaling, childhood-onset obesity, pseudohypoparathyroidism, acrodysostosis, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fped.2020.00145/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/abe3ed928a8744ada66ea43bbba7095f

المؤلفون: Petra Loid, Taina Mustila, Riikka E. Mäkitie, Heli Viljakainen, Anders Kämpe, Päivi Tossavainen, Marita Lipsanen-Nyman, Minna Pekkinen, Outi Mäkitie

المصدر: Frontiers in Endocrinology, Vol 11 (2020)

مصطلحات موضوعية: childhood obesity, hypothalamus, appetite regulation, hyperphagia, MC4R, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fendo.2020.00081/full; https://doaj.org/toc/1664-2392

URL الوصول: https://doaj.org/article/e98d2025a9bc49f8a4cacb8362dbfde3

المؤلفون: Helmi Härkönen, Petra Loid, Outi Mäkitie

المصدر: Genes, Vol 12, Iss 5, p 714 (2021)

مصطلحات موضوعية: SLC26A2, diastrophic dysplasia, multiple epiphyseal dysplasia, phenotype, skeletal dysplasia, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2073-4425/12/5/714; https://doaj.org/toc/2073-4425

URL الوصول: https://doaj.org/article/eac467f980cc4a24b5c673bf3dc86831

المؤلفون: Riikka E. Mäkitie, Outi Mäkitie, Alice Costantini, Heli Viljakainen, Minna Pekkinen, Petra Loid

المساهمون: Clinicum, Children's Hospital, University of Helsinki, Department of Food and Nutrition, Christel Lamberg-Allardt / Research Group, Lastentautien yksikkö, HUS Children and Adolescents, HUS Internal Medicine and Rehabilitation

المصدر: American journal of medical genetics. Part A. 176(9)

مصطلحات موضوعية: 0301 basic medicine, Male, Candidate gene, Adolescent, DNA Copy Number Variations, 030209 endocrinology & metabolism, Nerve Tissue Proteins, Overweight, Bioinformatics, Polymorphism, Single Nucleotide, Severity of Illness Index, Frameshift mutation, Body Mass Index, 03 medical and health sciences, symbols.namesake, hyperphagia, 0302 clinical medicine, Intellectual Disability, Intellectual disability, Genetics, medicine, Humans, infancy-onset obesity, Obesity, Age of Onset, Child, Genetics (clinical), Alleles, Genetic Association Studies, 2. Zero hunger, Sanger sequencing, Comparative Genomic Hybridization, business.industry, medicine.disease, GENE, MYT1L, 030104 developmental biology, Phenotype, Child, Preschool, Speech delay, Mutation, symbols, 3111 Biomedicine, medicine.symptom, business, Body mass index, Transcription Factors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c426fd7618f4d513f7abfd847862a657
https://pubmed.ncbi.nlm.nih.gov/30055078