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Category:All HeadlinesWorld & GeopoliticsMarkets & EconomyTech & AIPoliticsSearch results for: "Genetic spectrum among 20" (30 stories)

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Genetic spectrum among 2009 Iranian individuals with neuromuscular disorders using next generation sequencing and multiple ligation dependent probe amplification methods
Lead StoryNaturegeneral
Nov 28, 2025

Genetic spectrum among 2009 Iranian individuals with neuromuscular disorders using next generation sequencing and multiple ligation dependent probe amplification methods

<a href="https://news.google.com/rss/articles/CBMiX0FVX3lxTE90amFUbGEtZXBoczY1c3NtS3Y2T0ZEZEFIMU4zVnVmZVZReGIyaDJmbG9VZVJwZVdaX3Z5TW5XQjVfN2h6dFZjT2g4UDBYeVo5S3A2ZnMtNm9mXzdCM1pN?oc=5" target="_blank">Genetic spectrum among 2009 Iranian individuals with neuromuscular disorders using next generation sequencing and multiple ligation dependent probe amplification methods</a>  <font color="#6f6f6f">Nature</font>

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Search Results for "Genetic spectrum among 20"

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Review of the Genetic Spectrum of Hereditary Spastic Paraplegias in the Middle East and North Africa Regions
Neurology® Journalsgeneral

Review of the Genetic Spectrum of Hereditary Spastic Paraplegias in the Middle East and North Africa Regions

<a href="https://news.google.com/rss/articles/CBMiakFVX3lxTE5FRTVMQnBGQS16bksySXJ1TjB0Ql93aUtXRzdNRXBrVXNaNmxOdEgwYmdqQV9lZlR3Ny1hU3RyNFRhMGpOeC1NQnF5VmRZNnNERGctVzhZQ0I1ZUJfR1ZWaVpOWDNWTVhiQWc?oc=5" target="_blank">Review of the Genetic Spectrum of Hereditary Spastic Paraplegias in the Middle East and North Africa Regions</a>  <font color="#6f6f6f">Neurology® Journals</font>

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Genetic and Environmental Risk Factors for Autism Spectrum Disorder in Saudi Arabia: A Systematic Review
Cureusgeneral

Genetic and Environmental Risk Factors for Autism Spectrum Disorder in Saudi Arabia: A Systematic Review

<a href="https://news.google.com/rss/articles/CBMi2gFBVV95cUxPUTlfVkRBTjg2VWdFV2hDMEgwT3BoZXg0cGJSLXZMbVptc0MtYTlGTGxxbVJUQVVQR25Ld3VKbG0xallwcnE0VzljQ2hIYmhQU0pvemEtWXBXWmNRUmxPS2kzeW1nTVRBbWFCVkxhMzBUTENYcGFvbnVQXzhPQzZ1QW45QloxQWwzd1c3VGk5dUs5M2tPT01BUXVwQWdrbjdmT0gwZU1GLTVvbnZVa2pGX0xjd2ZKZjdKRUNOVktYbnJvWU8xVXJ5VWtRM1RqTFE4cU1qQ29DZEVrZw?oc=5" target="_blank">Genetic and Environmental Risk Factors for Autism Spectrum Disorder in Saudi Arabia: A Systematic Review</a>  <font color="#6f6f6f">Cureus</font>

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Genetic Causes and Modifiers of Autism Spectrum Disorder
Frontiersgeneral

Genetic Causes and Modifiers of Autism Spectrum Disorder

<a href="https://news.google.com/rss/articles/CBMingFBVV95cUxQTi1MUUxocktTQnZmUkNyVUJjUVVfVWhGbjNMUkhYLUpUazhCdkJNRHZvNlpJSjhUUG8xSXpaaXpSRjNkVnhlOXdFT1MxcExaSGdvSnJCQjNCMHkwMmZxcE1vMmxFQWQ0aWR4bmI4T2wzb0s1VTREejBTTENVendoeXFYbVZnM2liUHo1V1NGNEFyQ2h3VnQ3T0lmYndQZw?oc=5" target="_blank">Genetic Causes and Modifiers of Autism Spectrum Disorder</a>  <font color="#6f6f6f">Frontiers</font>

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The genetic spectrum of a cohort of patients clinically diagnosed as Parkinson’s disease in mainland China
Naturetech

The genetic spectrum of a cohort of patients clinically diagnosed as Parkinson’s disease in mainland China

<a href="https://news.google.com/rss/articles/CBMiX0FVX3lxTFBKOGRUTVgySmdhV0VtMXowZ1lDalFva1ZGV3FEYXVNVC0xNHR4S19qRF9YY2NNeExyeTRnZkpjVERsU0JMTWlRNmI3UlJseXNEbFN1VEZ0OG9GSjI3QXlv?oc=5" target="_blank">The genetic spectrum of a cohort of patients clinically diagnosed as Parkinson’s disease in mainland China</a>  <font color="#6f6f6f">Nature</font>

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The clinical and genetic spectrum of twenty-six individuals with hearing loss affected by MYO15A variants
Naturegeneral

The clinical and genetic spectrum of twenty-six individuals with hearing loss affected by MYO15A variants

<a href="https://news.google.com/rss/articles/CBMiX0FVX3lxTFBaZ2VIR3hnOGJ0Z2dmdVRxdDBia25OeVk0OGhXdjFjZTRLNVVlVVBVNzFoYnB6SHlJSEh0UWdpMm5YZkV5YkhsQXA3OWVqb055ZlRabzdlUGI0VS1IanhJ?oc=5" target="_blank">The clinical and genetic spectrum of twenty-six individuals with hearing loss affected by MYO15A variants</a>  <font color="#6f6f6f">Nature</font>

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Updated MDSGene review on the clinical and genetic spectrum of LRRK2 variants in Parkinson´s disease
Naturegeneral

Updated MDSGene review on the clinical and genetic spectrum of LRRK2 variants in Parkinson´s disease

<a href="https://news.google.com/rss/articles/CBMiX0FVX3lxTFBoZEItRVIxMU5XVGlsc0stSGhkT0Z0RGxmdTdWekhMVkdXZlotTTdTRk5hNEpWLXhHdUpxVVVSdXJHbm5ReXR3R3Uzd3I5RUVPNWY4TGFFY3FENnRaN3BF?oc=5" target="_blank">Updated MDSGene review on the clinical and genetic spectrum of LRRK2 variants in Parkinson´s disease</a>  <font color="#6f6f6f">Nature</font>

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The genetic landscape of autism spectrum disorder in an ancestrally diverse cohort | npj Genomic Medicine
Naturegeneral

The genetic landscape of autism spectrum disorder in an ancestrally diverse cohort | npj Genomic Medicine

<a href="https://news.google.com/rss/articles/CBMiX0FVX3lxTE5CVzZjNG4wOTBCLUo0T3lCQTl6dTNLYVBvMDQyb1lsNXRQYTBiNVBqMlVkUkJIRmpTSUJuT3l2Z0xNVVhoQS1HOHV3czN3d0o1V2UySldxTThpeEJ5S1Qw?oc=5" target="_blank">The genetic landscape of autism spectrum disorder in an ancestrally diverse cohort | npj Genomic Medicine</a>  <font color="#6f6f6f">Nature</font>

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Examining the clinical and genetic spectrum of maturity-onset diabetes of the young (MODY) in Iran
Natureworld

Examining the clinical and genetic spectrum of maturity-onset diabetes of the young (MODY) in Iran

<a href="https://news.google.com/rss/articles/CBMiX0FVX3lxTE9PWGZSbG1VZkNicDFjdjVRZFNZd0lrNjdjZUwwMEYzdGkyUGRZa3hnSDcyN1hBejBiWklKSGVZZ095MnFqbTdSMjlWclpPRTVIcnlDb3JCdk5sTzJDY1VJ?oc=5" target="_blank">Examining the clinical and genetic spectrum of maturity-onset diabetes of the young (MODY) in Iran</a>  <font color="#6f6f6f">Nature</font>

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PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families
Naturegeneral

PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families

<a href="https://news.google.com/rss/articles/CBMiX0FVX3lxTE1XOWJIM0lkeHJNeF93ZmtGUVRUbl92ZUJUc0tCTE9nYVRqMTViOFNMZTVmYV90c2VmeWRzb2dudjRZSmQ5SFlCbzlkY0NTcTAtcVZLb24ySmNwTjJZTF9v?oc=5" target="_blank">PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families</a>  <font color="#6f6f6f">Nature</font>

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Exploring the complex spectrum of dominance and recessiveness in genetic cardiomyopathies
Naturegeneral

Exploring the complex spectrum of dominance and recessiveness in genetic cardiomyopathies

<a href="https://news.google.com/rss/articles/CBMiX0FVX3lxTE9sdGpwcU01QkEwTWltNXFUR2dxRGU1X0VNcWNjZ3d0QTJJZXBsZFF4dXRKSkpzT3p2NG1UMlBqWkQ3MWdyNk9zMFpRd3VRQUNUVXR6Yl8ycWdtZ21Vd1Q0?oc=5" target="_blank">Exploring the complex spectrum of dominance and recessiveness in genetic cardiomyopathies</a>  <font color="#6f6f6f">Nature</font>

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Genetic landscape and phenotypic spectrum of osteogenesis imperfecta in the Kazakhstani pediatric population
Naturegeneral

Genetic landscape and phenotypic spectrum of osteogenesis imperfecta in the Kazakhstani pediatric population

<a href="https://news.google.com/rss/articles/CBMiX0FVX3lxTFBLRkd2SXhQVW9yZFJGZkthV2w2VHpwVUpwRzQ5VEppZXJ4ajg4NVRCUFV1eXBUZkVUSm8zTk5WcTV4NTNaOWY3emNpZEkzQzlKMmMwcHAxSFUyNWhmcm53?oc=5" target="_blank">Genetic landscape and phenotypic spectrum of osteogenesis imperfecta in the Kazakhstani pediatric population</a>  <font color="#6f6f6f">Nature</font>

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The mutational constraint spectrum quantified from variation in 141,456 humans
Naturetech

The mutational constraint spectrum quantified from variation in 141,456 humans

<a href="https://news.google.com/rss/articles/CBMiXkFVX3lxTFBQVVVKaGg4TTkxQVgtZHdPYjQ1TmR6eXktcVl4MHA5c1VqSjd3ZWpxRm12LWIzMF9nWG1NckZOSlMzdnBSYXJOU0lGeUNHNFg5Smp0cGpMd3FZVnpkVHc?oc=5" target="_blank">The mutational constraint spectrum quantified from variation in 141,456 humans</a>  <font color="#6f6f6f">Nature</font>

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The phenotypic and genetic spectrum of AKT3 -related neurodevelopmental condition
Naturegeneral

The phenotypic and genetic spectrum of AKT3 -related neurodevelopmental condition

<a href="https://news.google.com/rss/articles/CBMiX0FVX3lxTE9sWVlwRWdSSlBEcnB0WTRKc3I0cGk2R0VCeG93bFhmbV95N2ZLSlpyUVNRWnUyNnI4LThZYXduZy1jSmh3dk03R0NwdmU2OWVWZW5aV3ZIYnhCblJLVjZv?oc=5" target="_blank">The phenotypic and genetic spectrum of AKT3 -related neurodevelopmental condition</a>  <font color="#6f6f6f">Nature</font>

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Genetic analysis of 20 patients with hypomyelinating leukodystrophy by trio-based whole-exome sequencing
Naturegeneral

Genetic analysis of 20 patients with hypomyelinating leukodystrophy by trio-based whole-exome sequencing

<a href="https://news.google.com/rss/articles/CBMiX0FVX3lxTE1PSXJucjcwX25nV19PU2d6c2QwQnpXY05SSjc3UWJJZ0ViOXE4M0dZSUNINmZsUjVUUl9lNHFCWm1UcGpwVGVBY3k4TldnZFY0Z3RKZ1hMZlY4WnBTX09r?oc=5" target="_blank">Genetic analysis of 20 patients with hypomyelinating leukodystrophy by trio-based whole-exome sequencing</a>  <font color="#6f6f6f">Nature</font>

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Uncovering the genetic variation spectrum of colorectal polyposis from a multicentre cohort in China
Natureworld

Uncovering the genetic variation spectrum of colorectal polyposis from a multicentre cohort in China

<a href="https://news.google.com/rss/articles/CBMiX0FVX3lxTE5iRXl0YnJoQ3pMczJkVUNqLWFqZ1c5UnlCQ3lWNW9yc3VocmVBSEFURnQwdXE2ekdzeWNWb0cxZ3JFNFUtMDJ6ZktTMVlFcjJaUjJ6ZGhlVjQ4czMyLS13?oc=5" target="_blank">Uncovering the genetic variation spectrum of colorectal polyposis from a multicentre cohort in China</a>  <font color="#6f6f6f">Nature</font>

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Whole exome sequencing and 12-SNP LDL polygenic score in South Indian patients with familial hypercholesterolemia
Naturegeneral

Whole exome sequencing and 12-SNP LDL polygenic score in South Indian patients with familial hypercholesterolemia

<a href="https://news.google.com/rss/articles/CBMiX0FVX3lxTE1UQWRkSzFZTTl3bFpsV0lwT1VUSnlfUWhMbk14bnlkVkF1RXRUb2xGejRCZVZtV2UwZVNEMjN4ZUF4dGk2QTJrLWdfZmxqYmhYRG9sR3VqbmVsb1hiWkg4?oc=5" target="_blank">Whole exome sequencing and 12-SNP LDL polygenic score in South Indian patients with familial hypercholesterolemia</a>  <font color="#6f6f6f">Nature</font>

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Rapid evolution of mutation rate and spectrum in response to environmental and population-genetic challenges
Naturegeneral

Rapid evolution of mutation rate and spectrum in response to environmental and population-genetic challenges

<a href="https://news.google.com/rss/articles/CBMiX0FVX3lxTE9uYm5IN0tzRklvV3RaR2s1WjJnNUIyN051RFBBLTVwZWZXQ3NLemFxSmxFV1ZKU0htRVlDQ05PSHFndkNzOTZJV2gzWThlaC13eTNYRXlwcVNqZC1oS3Fj?oc=5" target="_blank">Rapid evolution of mutation rate and spectrum in response to environmental and population-genetic challenges</a>  <font color="#6f6f6f">Nature</font>

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Clinical and genetic spectrum of glycogen storage disease in Iranian population using targeted gene sequencing
Naturegeneral

Clinical and genetic spectrum of glycogen storage disease in Iranian population using targeted gene sequencing

<a href="https://news.google.com/rss/articles/CBMiX0FVX3lxTE16RnBjMEZCR2dhSmtfM0N2V0l4cHFMbkpGa0l2Si1Wa0dySW9sdGdFeW5oSFdjd3NWaWhXWm94WDRfcVcyblBaY2ZDbmhQYUdCX1Rod0JLY3VFb1VTcThR?oc=5" target="_blank">Clinical and genetic spectrum of glycogen storage disease in Iranian population using targeted gene sequencing</a>  <font color="#6f6f6f">Nature</font>

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A genetic map of human metabolism across the allele frequency spectrum
Naturegeneral

A genetic map of human metabolism across the allele frequency spectrum

<a href="https://news.google.com/rss/articles/CBMiX0FVX3lxTE5hWGNpYjNIRWowTFJmcW5WemVCYVNFVThZUlN6U3FxV0dBT2dCTEQ0Sjh0RE9CRFBXR1BwWm1EVEptNlNjMGRpSkF5ZDFVLU50bDVOQ3llNHRBQlV5Mk9z?oc=5" target="_blank">A genetic map of human metabolism across the allele frequency spectrum</a>  <font color="#6f6f6f">Nature</font>

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Clinical and genetic characterization of a Taiwanese cohort with spastic paraparesis combined with cerebellar involvement
Frontierstech

Clinical and genetic characterization of a Taiwanese cohort with spastic paraparesis combined with cerebellar involvement

<a href="https://news.google.com/rss/articles/CBMikAFBVV95cUxQdTRsZW85VGdza0xGY2tIaWNiVzVnQ0diNTl6cWVNV1hzRDRFM3FheUJLMk9KUC1ycWdRSFl4MjVrTlVYREpCNDcwNGpfb3dkQ0VQaWFvckxxbU13X0VTMllOMHV5cXRvSENDdElSZ2hwMmduTFdBd0QwWXlkSmI4S2tkZUJwSHQ1YjJVM1UtTXM?oc=5" target="_blank">Clinical and genetic characterization of a Taiwanese cohort with spastic paraparesis combined with cerebellar involvement</a>  <font color="#6f6f6f">Frontiers</font>

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Clinical features and genetic spectrum of Chinese patients with hereditary spastic paraplegia: A 14-year study
Frontiersgeneral

Clinical features and genetic spectrum of Chinese patients with hereditary spastic paraplegia: A 14-year study

<a href="https://news.google.com/rss/articles/CBMijwFBVV95cUxQNWtvSi0tbUVVR3drTkxhbVBseXhLWC12eF9keFBGWjhRcVNxNjFzejA1UXRkQlVLcnplNU9MYlpoSWRkMDI4T1RxZ2QwQUJUT1BRSUdIRXR4QVB6QXYzTkJyUW5IT1o0dzMzdUR5N24zZFlyN0hqUzRocE9aR3BCeTl4UzFpSUZFanVnejk1cw?oc=5" target="_blank">Clinical features and genetic spectrum of Chinese patients with hereditary spastic paraplegia: A 14-year study</a>  <font color="#6f6f6f">Frontiers</font>

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Genetic Spectrum of Arrhythmogenic Cardiomyopathy
American Heart Association Journalsgeneral

Genetic Spectrum of Arrhythmogenic Cardiomyopathy

<a href="https://news.google.com/rss/articles/CBMidkFVX3lxTFBLc3lHeC0tVWRJdVdUQXlIZkM5cFRVRGJLMUEzTUhIUnlGdk5IRWRUX2RfcnB2a0NUUHpibHRrSXB1Umg2SFR4Y3VaQVY3bnRmbWpoTFlHaVdheG1aaHZHOXo4TjQ1OEYzRFhmNkJkVXVnUTJXNkE?oc=5" target="_blank">Genetic Spectrum of Arrhythmogenic Cardiomyopathy</a>  <font color="#6f6f6f">American Heart Association Journals</font>

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Mutational spectrum and phenotypic variability of Duchenne muscular dystrophy and related disorders in a Bangladeshi population
Naturegeneral

Mutational spectrum and phenotypic variability of Duchenne muscular dystrophy and related disorders in a Bangladeshi population

<a href="https://news.google.com/rss/articles/CBMiX0FVX3lxTE5pZWN6VWpOUkVRU0sxNkpuUHZrVnFadkZ0WTNNQm5jTC1QNUx0MzgwQlVxRkR3Y0k3VHhuMUxrTUQ3SFo2azBQQjFNMDBjSk9Na3RYdFZ1QmIyU2xEYWY0?oc=5" target="_blank">Mutational spectrum and phenotypic variability of Duchenne muscular dystrophy and related disorders in a Bangladeshi population</a>  <font color="#6f6f6f">Nature</font>

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Frequency and spectrum of mutations in human sperm measured using duplex sequencing correlate with trio-based de novo mutation analyses
Naturegeneral

Frequency and spectrum of mutations in human sperm measured using duplex sequencing correlate with trio-based de novo mutation analyses

<a href="https://news.google.com/rss/articles/CBMiX0FVX3lxTE50d2dUWWl5LUp4NkNCZVV3ZXBKRVMtOUphdnc4WmhrLVQ1UDlKelc1a3VsVjRNZ2ZoUjQ1TWNBbk5Uc012ZWV5SmkwNHlBYlVsOEYxaGwyNWF5eXNPcjc4?oc=5" target="_blank">Frequency and spectrum of mutations in human sperm measured using duplex sequencing correlate with trio-based de novo mutation analyses</a>  <font color="#6f6f6f">Nature</font>

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The spectrum of clinical presentation in haploinsufficiency of A20; a case report of a novel mutation in TNFAIP3 gene
Frontierstech

The spectrum of clinical presentation in haploinsufficiency of A20; a case report of a novel mutation in TNFAIP3 gene

<a href="https://news.google.com/rss/articles/CBMikAFBVV95cUxNSGgwSlotTmpOY3llZnJZQktfZ1FkeE42V0ZvVjFUV1Zqdi0yMVBDYVhnVjJUWTZ4a3FvSWZsMDFGcnF1ZS1wNklWRVRsMmI0cllMYzhSZGJFcUFfaVFpaDZaOHp3VzJ5SGNJZ3ltVnhsWmU2Nl82X3dJU0N5S0RUTUtKMU1pU3dGLVVWcUl3WHY?oc=5" target="_blank">The spectrum of clinical presentation in haploinsufficiency of A20; a case report of a novel mutation in TNFAIP3 gene</a>  <font color="#6f6f6f">Frontiers</font>

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SOD1 Mutation Spectrum and Natural History of ALS Patients in a 15-Year Cohort in Southeastern China
Frontiersworld

SOD1 Mutation Spectrum and Natural History of ALS Patients in a 15-Year Cohort in Southeastern China

<a href="https://news.google.com/rss/articles/CBMijgFBVV95cUxPRFZFdU1vbGFsdWFQWm1rYlU0cllhV0JBZlhIZm03cnQyUWFDUGxKWVI1eE15dUQ5X3RNOUpIazhPMm9WMzBCaTU3YjJSeWkyeGFYMWdGWkEzRE4ydXYxQnJZel9kYnNuU3VIRE9yc2lHWHl1bnFEdHJ4ZVEtclZ3bVdya2RWY0JPR0JHYjBB?oc=5" target="_blank">SOD1 Mutation Spectrum and Natural History of ALS Patients in a 15-Year Cohort in Southeastern China</a>  <font color="#6f6f6f">Frontiers</font>

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The spectrum of novel ABCB11 gene variations in children with progressive familial intrahepatic cholestasis type 2 in Pakistani cohorts
Naturegeneral

The spectrum of novel ABCB11 gene variations in children with progressive familial intrahepatic cholestasis type 2 in Pakistani cohorts

<a href="https://news.google.com/rss/articles/CBMiX0FVX3lxTE9TQk96YVZQeWh6dEZOcy1TQy1BcjZ6dW4xNUt1OTEySm1HUEhNQVVmaThSajZLQ2N1MmJQWHdtek04Y0JyVzRhU1J4ZWI3VC1maW9zbXlCNFNLRG9NLTQ0?oc=5" target="_blank">The spectrum of novel ABCB11 gene variations in children with progressive familial intrahepatic cholestasis type 2 in Pakistani cohorts</a>  <font color="#6f6f6f">Nature</font>

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Clinical Spectrum of Obesity and Mutations in the Melanocortin 4 Receptor Gene
NEJMgeneral

Clinical Spectrum of Obesity and Mutations in the Melanocortin 4 Receptor Gene

<a href="https://news.google.com/rss/articles/CBMiXkFVX3lxTE9VMXBSZC1GX0w3M2ttTkRkamdtdWlsLWFiSFV1NUFiMlpqRUc1NUl4el9NX29pU0t0c1ZiSEF0OER3M0lnNlZKODF0cEc3V1EwYzNOWWpDQ1lWMFBfNlE?oc=5" target="_blank">Clinical Spectrum of Obesity and Mutations in the Melanocortin 4 Receptor Gene</a>  <font color="#6f6f6f">NEJM</font>

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Investigation of the Mutation Spectrum in Pediatric Patients with Maturity-Onset Diabetes of Youth (MODY): Experience from a Diagnostic Center in Türkiye | Duzkale | Clinical Diabetology
Via Medica Journalsgeneral

Investigation of the Mutation Spectrum in Pediatric Patients with Maturity-Onset Diabetes of Youth (MODY): Experience from a Diagnostic Center in Türkiye | Duzkale | Clinical Diabetology

<a href="https://news.google.com/rss/articles/CBMieEFVX3lxTE05WGIxd3dqTVBfUWJMb3pSSWN4T1FfOEVrREsyNHQtb2lGUjBtazhwWHFQMTdmdjJMaElzNjdIXzAtd3NjakRsRUt2UnF6bXJvalBpdFo1VTFzVmlWM04xU1d4bnRkN2ZrZkpzRmdFNnkzdll1ZGVDOA?oc=5" target="_blank">Investigation of the Mutation Spectrum in Pediatric Patients with Maturity-Onset Diabetes of Youth (MODY): Experience from a Diagnostic Center in Türkiye | Duzkale | Clinical Diabetology</a>  <font color="#6f6f6f">Via Medica Journals</font>

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