A Commemorative Issue in Honor of Professor Merlin G. Butler's Retirement
This Special Issue of the International Journal of Molecular Sciences is dedicated to Professor Merlin G. Butler, in recognition of his retirement and to commemorate his substantial contributions to the field of genetics and genomics-driven medical care. Dr. Butler has been a pioneer in the expansio...
I tiakina i:
| Hōputu: | Online |
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| Reo: | Ingarihi |
| I whakaputaina: |
MDPI - Multidisciplinary Digital Publishing Institute
2025
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| Ngā marau: | |
| Urunga tuihono: | ONIX_20250220_9783725830329_525 |
| Ngā Tūtohu: |
Kāore He Tūtohu, Me noho koe te mea tuatahi ki te tūtohu i tēnei pūkete!
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| _version_ | 1869529112619515904 |
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| collection | Directory of Open Access Books |
| description | This Special Issue of the International Journal of Molecular Sciences is dedicated to Professor Merlin G. Butler, in recognition of his retirement and to commemorate his substantial contributions to the field of genetics and genomics-driven medical care. Dr. Butler has been a pioneer in the expansion of our understanding of how genetics can help inform healthcare professionals regarding individuals with neurodevelopmental syndromes and conditions. This commemorative Special Issue focuses on original research and review articles evaluating innovative molecular and computational approaches for studying the mechanisms underlying the expression and development of both common and rare genetic conditions. |
| format | Online |
| id | doab-20.500.12854ir-153161 |
| institution | Directory of Open Access Books |
| language | eng |
| publishDate | 2025 |
| publishDateRange | 2025 |
| publishDateSort | 2025 |
| publisher | MDPI - Multidisciplinary Digital Publishing Institute |
| publisherStr | MDPI - Multidisciplinary Digital Publishing Institute |
| record_format | ojs |
| spelling | doab-20.500.12854ir-1531612025-02-20T13:39:28Z A Commemorative Issue in Honor of Professor Merlin G. Butler's Retirement Godler, David E. Veatch, Olivia J. DNA methylation episignature epigenetics copy number variant neurodevelopmental disorder genomic disorder FMR1 gene fragile X syndrome FMR1 gray zone or intermediate alleles connective tissue-related disorders sleep-related breathing disorders obstructive sleep apnea polysomnography growth hormone before-after comparison obesity genetics monogenic polygenic Prader-Willi syndrome Prader-Willi syndrome genotype phenotype hypothalamus brain development array CGH CGR complex genomic rearrangements chromothripsis cryptic rearrangement OGM optical genome mapping genome sequencing DEE developmental and epileptic encephalopathy SCN1A SCN2A body composition muscle strength non-alcoholic fatty liver disease children Prader-Willi syndrome (PWS) high-resolution chromosomal microarray PWS molecular genetic classes typical 15q11-q13 deletion subtypes maternal disomy 15 subclasses atypical PWS genetic findings DESTINY PWS Prader–Willi syndrome hyperphagia clinical trials Prader–Willi syndrome (PWS) typical 15q11-q13 Type I Type II deletions 15q11.2 BP1-BP2 deletion clinical findings autonomic nervous system (ANS) childhood obesity FMR1 epigenetic boundary premutation methylation intellectual disability n/a Mowat–Wilson syndrome (MWS) case report review ZEB2 gene variants ZEB2 protein domains and defects ZEB2 functional molecular interactions thema EDItEUR::M Medicine and Nursing This Special Issue of the International Journal of Molecular Sciences is dedicated to Professor Merlin G. Butler, in recognition of his retirement and to commemorate his substantial contributions to the field of genetics and genomics-driven medical care. Dr. Butler has been a pioneer in the expansion of our understanding of how genetics can help inform healthcare professionals regarding individuals with neurodevelopmental syndromes and conditions. This commemorative Special Issue focuses on original research and review articles evaluating innovative molecular and computational approaches for studying the mechanisms underlying the expression and development of both common and rare genetic conditions. 2025-02-20T13:39:25Z 2025-02-20T13:39:25Z 2025 book ONIX_20250220_9783725830329_525 9783725830329 9783725830312 https://directory.doabooks.org/handle/20.500.12854/153161 eng application/octet-stream Attribution 4.0 International https://mdpi.com/books/pdfview/book/10424 MDPI - Multidisciplinary Digital Publishing Institute 10.3390/books978-3-7258-3031-2 10.3390/books978-3-7258-3031-2 46cabcaa-dd94-4bfe-87b4-55023c1b36d0 9783725830329 9783725830312 200 Basel open access |
| spellingShingle | DNA methylation episignature epigenetics copy number variant neurodevelopmental disorder genomic disorder FMR1 gene fragile X syndrome FMR1 gray zone or intermediate alleles connective tissue-related disorders sleep-related breathing disorders obstructive sleep apnea polysomnography growth hormone before-after comparison obesity genetics monogenic polygenic Prader-Willi syndrome Prader-Willi syndrome genotype phenotype hypothalamus brain development array CGH CGR complex genomic rearrangements chromothripsis cryptic rearrangement OGM optical genome mapping genome sequencing DEE developmental and epileptic encephalopathy SCN1A SCN2A body composition muscle strength non-alcoholic fatty liver disease children Prader-Willi syndrome (PWS) high-resolution chromosomal microarray PWS molecular genetic classes typical 15q11-q13 deletion subtypes maternal disomy 15 subclasses atypical PWS genetic findings DESTINY PWS Prader–Willi syndrome hyperphagia clinical trials Prader–Willi syndrome (PWS) typical 15q11-q13 Type I Type II deletions 15q11.2 BP1-BP2 deletion clinical findings autonomic nervous system (ANS) childhood obesity FMR1 epigenetic boundary premutation methylation intellectual disability n/a Mowat–Wilson syndrome (MWS) case report review ZEB2 gene variants ZEB2 protein domains and defects ZEB2 functional molecular interactions thema EDItEUR::M Medicine and Nursing A Commemorative Issue in Honor of Professor Merlin G. Butler's Retirement |
| title | A Commemorative Issue in Honor of Professor Merlin G. Butler's Retirement |
| title_full | A Commemorative Issue in Honor of Professor Merlin G. Butler's Retirement |
| title_fullStr | A Commemorative Issue in Honor of Professor Merlin G. Butler's Retirement |
| title_full_unstemmed | A Commemorative Issue in Honor of Professor Merlin G. Butler's Retirement |
| title_short | A Commemorative Issue in Honor of Professor Merlin G. Butler's Retirement |
| title_sort | commemorative issue in honor of professor merlin g butler s retirement |
| topic | DNA methylation episignature epigenetics copy number variant neurodevelopmental disorder genomic disorder FMR1 gene fragile X syndrome FMR1 gray zone or intermediate alleles connective tissue-related disorders sleep-related breathing disorders obstructive sleep apnea polysomnography growth hormone before-after comparison obesity genetics monogenic polygenic Prader-Willi syndrome Prader-Willi syndrome genotype phenotype hypothalamus brain development array CGH CGR complex genomic rearrangements chromothripsis cryptic rearrangement OGM optical genome mapping genome sequencing DEE developmental and epileptic encephalopathy SCN1A SCN2A body composition muscle strength non-alcoholic fatty liver disease children Prader-Willi syndrome (PWS) high-resolution chromosomal microarray PWS molecular genetic classes typical 15q11-q13 deletion subtypes maternal disomy 15 subclasses atypical PWS genetic findings DESTINY PWS Prader–Willi syndrome hyperphagia clinical trials Prader–Willi syndrome (PWS) typical 15q11-q13 Type I Type II deletions 15q11.2 BP1-BP2 deletion clinical findings autonomic nervous system (ANS) childhood obesity FMR1 epigenetic boundary premutation methylation intellectual disability n/a Mowat–Wilson syndrome (MWS) case report review ZEB2 gene variants ZEB2 protein domains and defects ZEB2 functional molecular interactions thema EDItEUR::M Medicine and Nursing |
| topic_facet | DNA methylation episignature epigenetics copy number variant neurodevelopmental disorder genomic disorder FMR1 gene fragile X syndrome FMR1 gray zone or intermediate alleles connective tissue-related disorders sleep-related breathing disorders obstructive sleep apnea polysomnography growth hormone before-after comparison obesity genetics monogenic polygenic Prader-Willi syndrome Prader-Willi syndrome genotype phenotype hypothalamus brain development array CGH CGR complex genomic rearrangements chromothripsis cryptic rearrangement OGM optical genome mapping genome sequencing DEE developmental and epileptic encephalopathy SCN1A SCN2A body composition muscle strength non-alcoholic fatty liver disease children Prader-Willi syndrome (PWS) high-resolution chromosomal microarray PWS molecular genetic classes typical 15q11-q13 deletion subtypes maternal disomy 15 subclasses atypical PWS genetic findings DESTINY PWS Prader–Willi syndrome hyperphagia clinical trials Prader–Willi syndrome (PWS) typical 15q11-q13 Type I Type II deletions 15q11.2 BP1-BP2 deletion clinical findings autonomic nervous system (ANS) childhood obesity FMR1 epigenetic boundary premutation methylation intellectual disability n/a Mowat–Wilson syndrome (MWS) case report review ZEB2 gene variants ZEB2 protein domains and defects ZEB2 functional molecular interactions thema EDItEUR::M Medicine and Nursing |
| url | ONIX_20250220_9783725830329_525 |