Works matching IS 23249269 AND DT 2024 AND VI 12 AND IP 11

Results: 19

A Novel Synonymous Variant in SQSTM1 Causes Neurodegeneration With Ataxia, Dystonia, and Gaze Palsy Revealed by Urine‐Derived Cells‐Based Functional Analysis.
Published in:
Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 11, p. 1, doi. 10.1002/mgg3.70044
By:
- Masuko, Shinji;
- Sato, Mitsuto;
- Nakamura, Katsuya;
- Hamanaka, Kohei;
- Miyatake, Satoko;
- Inaba, Yuji;
- Kosho, Tomoki;
- Matsumoto, Naomichi;
- Sekijima, Yoshiki
Publication type:
Article
Parkinson's Disease Polygenic Risk Score and Neurological Involvement in Carriers of the FMR1 Premutation Allele: A Case for Genetic Modifier.
Published in:
Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 11, p. 1, doi. 10.1002/mgg3.70043
By:
- Loesch, Danuta Z.;
- Chafota, Freddy;
- Bui, Minh Q.;
- Storey, Elsdon;
- Atkinson, Anna;
- Martin, Nicholas G.;
- Gordon, Scott D.;
- Rentería, Miguel E.;
- Hagerman, Randi J.;
- Tassone, Flora
Publication type:
Article
Variability in Disease Severity in Siblings With Homozygous Missense Variant of ADSSL1: Clinical Genetic Study and Review of Literatures.
Published in:
2024
By:
- Wang, Hui;
- Zhang, Ting;
- Xu, Yanming;
- Fan, Wenhui
Publication type:
Case Study
Performance of Dysmorphology‐Based Screening for Genetic Disorders in Pediatric Congenital Heart Disease Supports Wider Genetic Testing.
Published in:
Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 11, p. 1, doi. 10.1002/mgg3.70040
By:
- Helm, Benjamin M.;
- Helvaty, Lindsey R.;
- Conboy, Erin;
- Geddes, Gabrielle C.;
- Graham, Brett H.;
- Lah, Melissa;
- Wetherill, Leah;
- Landis, Benjamin J.;
- Ware, Stephanie M.
Publication type:
Article
Barriers and Facilitators to Participation in Clinical Trials Related to Familial Frontotemporal Dementia: A Qualitative Study.
Published in:
Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 11, p. 1, doi. 10.1002/mgg3.70038
By:
- Zammitt, David;
- Brotherhood, Emilie V.;
- Fearn, Caroline;
- Greaves, Caroline;
- Hayes, Ollie;
- Harding, Emma;
- Lykourgos, Madalena;
- Rohrer, Jonathan D.;
- Stott, Josh
Publication type:
Article
Long‐Read Sequencing Identifying the Genetic Complexity of Congenital Adrenal Hyperplasia in the Pedigree.
Published in:
2024
By:
- Chen, Ximin;
- Zhao, Jing;
- Li, Danhua;
- Xi, Na;
- Yi, Danying;
- Yan, Mengjia;
- Yin, Yan;
- Wang, Xueyan
Publication type:
Case Study
Development of a Tagmentation‐Based Next‐Generation Sequencing Clinical Assay as an Alternative to Capillary Electrophoresis‐Based Sequencing.
Published in:
Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 11, p. 1, doi. 10.1002/mgg3.70035
By:
- Kuek, Wei Cheng David;
- Chai, Chean Nee;
- Tham, Wei Ming Jason;
- Ng, Alvin Yu Jin;
- Lau, Dilys Shi Ning;
- Loo, Janice Yen Qi;
- Van, Dan Thu;
- Tan, Joanna Kia Min;
- Lee, Chun Kiat;
- Yan, Benedict;
- Chan, Tim Hon Man
Publication type:
Article
SRY+ Derivative X Chromosome in a Female With Apparently Typical Sexual Development.
Published in:
2024
By:
- Brewer, Casey J.;
- Coyan, Alyxis G.;
- Smith, Nicki;
- Jones, Brittany;
- Smolarek, Teresa A.;
- Liu, Jie
Publication type:
Case Study
A Novel Splice Site Variant in COL6A1 Causes Ullrich Congenital Muscular Dystrophy in a Consanguineous Malian Family.
Published in:
2024
By:
- Maiga, Alassane Baneye;
- Pamanta, Ibrahim;
- Bamba, Salia;
- Cissé, Lassana;
- Diarra, Salimata;
- Touré, Sidi;
- Yalcouyé, Abdoulaye;
- Diallo, Seydou;
- Diallo, Salimata;
- Kané, Fousseyni;
- Diallo, Seybou Hassane;
- Ba, Hamidou Oumar;
- Guinto, Cheick Oumar;
- Fischbeck, Kenneth;
- Landoure, Guida;
- Cissé, Idrissa Ahmadou
Publication type:
Case Study
A Novel Homozygote Pathogenic Variant in the DIAPH1 Gene Associated With Seizures, Cortical Blindness, and Microcephaly Syndrome (SCBMS): Report of a Family and Literature Review.
Published in:
Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 11, p. 1, doi. 10.1002/mgg3.70031
By:
- Esmaeilzadeh, Emran;
- Biglari, Sajjad;
- Mosallaei, Meysam;
- Khorshid, Hamid Reza Khorram;
- Vahidnezhad, Hassan;
- Tabatabaiefar, Mohammad Amin
Publication type:
Article
Pathogenicity of the LDLR c.97C>T (p.Gln33Ter) Mutation in Familial Hypercholesterolemia.
Published in:
Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 11, p. 1, doi. 10.1002/mgg3.70030
By:
- Wang, Kaihan;
- Hu, Tingting;
- Tai, Mengmeng;
- Shen, Yan;
- Lin, Shaoyi;
- Guo, Yongjuan;
- Chen, Xiaomin
Publication type:
Article
Newborn Screening for Isovaleric Acidemia: Treatment With Pivalate‐Generating Antibiotics Contributed to False C5‐Carnitine Positivity in a Chinese Population.
Published in:
Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 11, p. 1, doi. 10.1002/mgg3.70034
By:
- Zhou, Wei;
- Huang, Ting;
- Li, Huizhong;
- Gu, Maosheng
Publication type:
Article
Deciphering Growth Patterns in Korean Children With Sotos Syndrome Through the Development of a Disease‐Specific Growth Chart.
Published in:
Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 11, p. 1, doi. 10.1002/mgg3.70028
By:
- Choi, Naye;
- Kim, Hwa Young;
- Ko, Jung Min
Publication type:
Article
Reclassification of Two MLH1 Variants of Uncertain Significance Utilizing Clinical and Functional Data.
Published in:
Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 11, p. 1, doi. 10.1002/mgg3.70026
By:
- Frederiksen, Jane Hübertz;
- Birkedal, Ulf;
- Bachmann, Sarah;
- Eliesen, Elisabeth Victoria;
- Rasmussen, Lene Juel;
- Pedersen, Katja Venborg;
- Al‐Zehhawi, Lana;
- Boonen, Susanne E.;
- Krogh, Lotte;
- Rønlund, Karina;
- Graversen, Lise;
- Assenholt, Jannie;
- Schmiegelow, Kjeld;
- Wadt, Karin;
- Gerdes, Anne‐Marie;
- Hansen, Thomas v. O.
Publication type:
Article
Assessment of Myocardial Fibrosis in Marfan Syndrome Using Cardiac Magnetic Resonance Imaging.
Published in:
Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 11, p. 1, doi. 10.1002/mgg3.70024
By:
- Demolder, Anthony;
- Devos, Dan;
- De Backer, Julie;
- Muiño‐Mosquera, Laura
Publication type:
Article
ERAP1 Gene Variants and Haplotypes Associated With Psoriasis Vulgaris of Han Chinese in Inner Mongolia.
Published in:
Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 11, p. 1, doi. 10.1002/mgg3.70021
By:
- Li, Xin;
- Bao, Jia;
- Ai, Liya;
- Yang, Fan‐Rui;
- Yu, Bo;
- Huang, Yan‐Ping;
- Li, Na;
- Ding, Wen‐Yuan;
- Sun, Zhi‐Qiang;
- Lv, Xin‐Xiang;
- Han, Jian‐Wen
Publication type:
Article
A Novel Mutation of FOXC1 (P136L) in an Axenfeld–Rieger Syndrome Patient With a Systematized Delusion of Jealousy: A Case Report and Literature Review.
Published in:
Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 11, p. 1, doi. 10.1002/mgg3.70008
By:
- Yoshino, Yuta;
- Iga, Jun‐ichi;
- Ueno, Shu‐ichi
Publication type:
Article
Issue Information.
Published in:
Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 11, p. 1, doi. 10.1002/mgg3.2213
Publication type:
Article
In a cohort of 961 clinically suspected Duchenne muscular dystrophy patients, 105 were diagnosed to have other muscular dystrophies (OMDs), with LGMD2E (variant SGCB c.544A>C) being the most common.
Published in:
Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 11, p. 1, doi. 10.1002/mgg3.2123
By:
- Karthikeyan, Priya;
- Kumar, Shalini H.;
- Khanna‐Gupta, Arati;
- Bremadesam Raman, Lakshmi
Publication type:
Article