المؤلفون: Sheth, Harsh^{Aff1, IDs40246024006139_cor1}, Nair, Aadhira, Bhavsar, Riddhi, Kamate, Mahesh, Gowda, Vykuntaraju K., Bavdekar, Ashish, Kadam, Sandeep, Nampoothiri, Sheela, Panigrahi, Inusha, Kaur, Anupriya, Shah, Siddharth, Mehta, Sanjeev, Jagadeesan, Sujatha, Suresh, Indrani, Kapoor, Seema, Bajaj, Shruti, Devi, Radha Rama, Prajapati, Ashka, Godbole, Koumudi, Patel, Harsh, Luhar, Zulfiqar, Shah, Raju C., Iyer, Anand, Bijarnia, Sunita, Puri, Ratna, Muranjan, Mamta, Shah, Ami, Magar, Suvarna, Gupta, Neerja, Tayade, Naresh, Gandhi, Ajit, Sowani, Ajit, Kale, Shrutikaa, Jalan, Anil, Solanki, Dhaval, Dalal, Ashwin, Mane, Shrikant, Prabha, C. Ratna, Sheth, Frenny, Joshi, Chaitanya G., Joshi, Madhvi, Sheth, Jayesh^{Aff1, IDs40246024006139_cor42}

المصدر: Human Genomics. 18(1)

المؤلفون: Harsh Sheth, Aadhira Nair, Riddhi Bhavsar, Mahesh Kamate, Vykuntaraju K. Gowda, Ashish Bavdekar, Sandeep Kadam, Sheela Nampoothiri, Inusha Panigrahi, Anupriya Kaur, Siddharth Shah, Sanjeev Mehta, Sujatha Jagadeesan, Indrani Suresh, Seema Kapoor, Shruti Bajaj, Radha Rama Devi, Ashka Prajapati, Koumudi Godbole, Harsh Patel, Zulfiqar Luhar, Raju C. Shah, Anand Iyer, Sunita Bijarnia, Ratna Puri, Mamta Muranjan, Ami Shah, Suvarna Magar, Neerja Gupta, Naresh Tayade, Ajit Gandhi, Ajit Sowani, Shrutikaa Kale, Anil Jalan, Dhaval Solanki, Ashwin Dalal, Shrikant Mane, C. Ratna Prabha, Frenny Sheth, Chaitanya G. Joshi, Madhvi Joshi, Jayesh Sheth

المصدر: Human Genomics, Vol 18, Iss 1, Pp 1-20 (2024)

مصطلحات موضوعية: Lysosomal storage disorders, smMIP probes, Dried blood spot, Diagnostic yield, Cost effective, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1479-7364

URL الوصول: https://doaj.org/article/8292fe789fb04f60a6890327d1f87871

المؤلفون: Jayesh Sheth, Aadhira Nair, Riddhi Bhavsar, Heli Shah, Naresh Tayade, C. Ratna Prabha, Frenny Sheth, Harsh Sheth

المصدر: JIMD Reports, Vol 64, Iss 4, Pp 265-273 (2023)

مصطلحات موضوعية: case report, gait, MLD, prosaposin, smMIP‐NGS, tremors, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2192-8312

URL الوصول: https://doaj.org/article/7fbeb53e80d9422baa116c7267af3316

المؤلفون: Karolina M. Andralojc, Mariano A. Molina, Mengjie Qiu, Bram Spruijtenburg, Menno Rasing, Bernard Pater, Martijn A. Huynen, Bas E. Dutilh, Thomas H. A. Ederveen, Duaa Elmelik, Albert G. Siebers, Diede Loopik, Ruud L. M. Bekkers, William P. J. Leenders, Willem J. G. Melchers

المصدر: BMC Biology, Vol 19, Iss 1, Pp 1-18 (2021)

مصطلحات موضوعية: Cervicovaginal microbiome, hrHPV, Targeted sequencing, smMIP, CiRNAseq, CST, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1741-7007

URL الوصول: https://doaj.org/article/a9e97d83932d40de9ec28b0e6c2e6fef

المؤلفون: Andralojc, Karolina M.^{Aff1, Aff2}, Molina, Mariano A.^{Aff1, Aff3}, Qiu, Mengjie, Spruijtenburg, Bram, Rasing, Menno, Pater, Bernard, Huynen, Martijn A., Dutilh, Bas E.^{Aff4, Aff5}, Ederveen, Thomas H. A., Elmelik, Duaa, Siebers, Albert G., Loopik, Diede, Bekkers, Ruud L. M.^{Aff8, Aff9}, Leenders, William P. J.^{Aff2, Aff10, IDs1291502101204z_cor14}, Melchers, Willem J. G.^{Aff1, IDs1291502101204z_cor15}

المصدر: BMC Biology. 19(1)

المؤلفون: Elise M. Bekers, Astrid Eijkelenboom, Paul Rombout, Peter van Zwam, Suzanne Mol, Emiel Ruijter, Blanca Scheijen, Uta Flucke

المصدر: Diagnostic Pathology, Vol 14, Iss 1, Pp 1-10 (2019)

مصطلحات موضوعية: Next generation sequencing, TaqMan genotyping, smMIP assay, GNAS mutation, Intramuscular myxoma, Pathology, RB1-214

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13000-019-0787-3; https://doaj.org/toc/1746-1596

URL الوصول: https://doaj.org/article/07f88e3c24484780a47a1c2e67e4dd72

المؤلفون: Bekers, Elise M.^{Aff1, Aff2}, Eijkelenboom, Astrid^Aff1, Rombout, Paul^Aff1, van Zwam, Peter^Aff3, Mol, Suzanne^Aff4, Ruijter, Emiel^Aff5, Scheijen, Blanca^Aff1, Flucke, Uta^Aff1

المصدر: Diagnostic Pathology. 14(1)

المؤلفون: Ymkje M. Hettinga, Karsten Hufendiek, Jacek P. Szaflik, Ian M. MacDonald, Isabelle Meunier, Marcela D. Mena, Kaoru Fujinami, Mubeen Khan, Eyal Banin, Elfride De Baere, G. Jane Farrar, Adrian Dockery, Rianne Miller, Tamar Ben-Yosef, Manar Salameh, L. Ingeborgh van den Born, Anna M Tracewska, Sandro Banfi, Caroline C W Klaver, John N. De Roach, Carmen Ayuso, Sabine Defoort, Damjan Glavač, Ulrich Kellner, Juliana Maria Ferraz Sallum, Claire-Marie Dhaenens, Stéphanie S. Cornelis, Bernhard H. F. Weber, Klaus Rüther, Jennifer A. Thompson, Bernard Puech, Raj Ramesar, Aurore Devos, Lisa Roberts, Herbert Jägle, Osvaldo L. Podhajcer, Hadas Newman, Bohdan Kousal, Femke Bults, Marta Del Pozo-Valero, Marc Pieterse, Laura Whelan, Xavier Zanlonghi, Alaa AlTalbishi, Francesca Simonelli, Marloes Steehouwer, Caroline Thuillier, Frans P.M. Cremers, Andrea L Vincent, Smaragda Kamakari, Ana Fakin, Anna Matynia, Dror Sharon, Ketan Mishra, Mariana Vallim Salles, Heidi Stöhr, Miriam Bauwens, Petra Liskova, Esmee H. Runhart, Buhle Ntozini, Georg Spital, Carel B. Hoyng, Takaaki Hayashi, Terri L. McLaren, Martine van Zweeden, Lubica Dudakova, Camiel J. F. Boon, Christian Gilissen, Jacquie Greenberg, Monika Ołdak, Tina M. Lamey, Yahya AlSwaiti, Alexander Hoischen, Marianthi Karali, Michael B. Gorin

المساهمون: Ophthalmology, ANS - Complex Trait Genetics, Khan, Mubeen, Cornelis, Stéphanie S, Pozo-Valero, Marta Del, Whelan, Laura, Runhart, Esmee H, Mishra, Ketan, Bults, Femke, Alswaiti, Yahya, Altalbishi, Alaa, De Baere, Elfride, Banfi, Sandro, Banin, Eyal, Bauwens, Miriam, Ben-Yosef, Tamar, Boon, Camiel J F, van den Born, L Ingeborgh, Defoort, Sabine, Devos, Aurore, Dockery, Adrian, Dudakova, Lubica, Fakin, Ana, Farrar, G Jane, Sallum, Juliana Maria Ferraz, Fujinami, Kaoru, Gilissen, Christian, Glavač, Damjan, Gorin, Michael B, Greenberg, Jacquie, Hayashi, Takaaki, Hettinga, Ymkje M, Hoischen, Alexander, Hoyng, Carel B, Hufendiek, Karsten, Jägle, Herbert, Kamakari, Smaragda, Karali, Marianthi, Kellner, Ulrich, Klaver, Caroline C W, Kousal, Bohdan, Lamey, Tina M, Macdonald, Ian M, Matynia, Anna, Mclaren, Terri L, Mena, Marcela D, Meunier, Isabelle, Miller, Rianne, Newman, Hada, Ntozini, Buhle, Oldak, Monika, Pieterse, Marc, Podhajcer, Osvaldo L, Puech, Bernard, Ramesar, Raj, Rüther, Klau, Salameh, Manar, Salles, Mariana Vallim, Sharon, Dror, Simonelli, Francesca, Spital, Georg, Steehouwer, Marloe, Szaflik, Jacek P, Thompson, Jennifer A, Thuillier, Caroline, Tracewska, Anna M, van Zweeden, Martine, Vincent, Andrea L, Zanlonghi, Xavier, Liskova, Petra, Stöhr, Heidi, Roach, John N De, Ayuso, Carmen, Roberts, Lisa, Weber, Bernhard H F, Dhaenens, Claire-Marie, Cremers, Frans P M

المصدر: Genetics in Medicine
Genetics in medicine, 22(7), 1235-1246. Lippincott Williams and Wilkins
Genetics in Medicine, 22, 7, pp. 1235-1246
GENETICS IN MEDICINE
Genetics in Medicine, 22(7), 1235-1246. Lippincott Williams & Wilkins
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
Genetics in Medicine, 22(7), 1235-1246. NATURE PUBLISHING GROUP
Genetics in Medicine, 22, 1235-1246

مصطلحات موضوعية: DEEP-INTRONIC VARIANTS, Proband, smMIP, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], ABCA4, RPE65, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Macular Degeneration, Exon, 0302 clinical medicine, Missing heritability problem, purl.org/becyt/ford/3.2 [https], Medicine and Health Sciences, smMIPs, MUTATION, Genetics (clinical), Genetics, variants, 0303 health sciences, structural, biology, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Genomics, DYSTROPHY, Pedigree, 3. Good health, Stargardt disease, MATERNAL UNIPARENTAL ISODISOMY, purl.org/becyt/ford/3 [https], RETINAL, CHROMOSOME-1, PATIENT, STRUCTURAL VARIANTS, Deep sequencing, 03 medical and health sciences, SDG 3 - Good Health and Well-being, deep-intronic variants, REVEALS, medicine, Humans, 030304 developmental biology, REPAIR, deep-intronic variant, structural variants, medicine.disease, GENE, Introns, Uniparental Isodisomy, Mutation, 030221 ophthalmology & optometry, biology.protein, ATP-Binding Cassette Transporters, Transcriptome

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e3bc891c1991aee449da207a212dba0

المؤلفون: Kelly A.E. Sinx, Ernst-Jan M. Speel, Virrie van Zutven, Michel van Geel, P.M. Steijlen, Renske Janssen, Guido M.J.M. Roemen, Klara Mosterd

المساهمون: Dermatologie, RS: GROW - R3 - Innovative Cancer Diagnostics & Therapy, MUMC+: MA Dermatologie (9), Promovendi ODB, RS: GROW - R2 - Basic and Translational Cancer Biology, Pathologie, MUMC+: MA AIOS Dermatologie (9), MUMC+: MA Dermatologie (3), MUMC+: DA KG Lab Centraal Lab (9)

المصدر: JAAD Case Reports, 4(5), 408-11. Elsevier Inc.
JAAD Case Reports

مصطلحات موضوعية: 0301 basic medicine, Patched, SHH, sonic hedgehog pathway, Basal Cell Nevus Syndrome, Vismodegib, Case Report, Dermatology, smMIP, single-molecule molecular inversion probes, 03 medical and health sciences, hedgehog pathway, 0302 clinical medicine, Germline mutation, basal cell carcinoma, vismodegib, medicine, Basal cell carcinoma, laBCC, locally advanced BCC, basal cell nevus syndrome, BCC, basal cell carcinoma, business.industry, mBCC, metastatic BCC, medicine.disease, tumor resistance, Hedgehog signaling pathway, 030104 developmental biology, PTCH1, 030220 oncology & carcinogenesis, Cancer research, business, Smoothened, BCNS, basal cell nevus syndrome, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::17a9e4ff75fb9b9aa0e5b64c564ad5bd
https://doi.org/10.1016/j.jdcr.2017.11.011

المؤلفون: Sheth J; FRIGE's Institute of Human Genetics, FRIGE House Ahmedabad India., Nair A; FRIGE's Institute of Human Genetics, FRIGE House Ahmedabad India., Bhavsar R; FRIGE's Institute of Human Genetics, FRIGE House Ahmedabad India., Shah H; Smt. NHL Municipal Medical College Ahmedabad India., Tayade N; Department of Pediatrics Dr. Panjabrao Deshmukh Memorial Medical College Amravati India., Prabha CR; Department of Biochemistry, Faculty of Science The M. S. University of Baroda Vadodara India., Sheth F; FRIGE's Institute of Human Genetics, FRIGE House Ahmedabad India., Sheth H; FRIGE's Institute of Human Genetics, FRIGE House Ahmedabad India.

المصدر: JIMD reports [JIMD Rep] 2023 Jun 05; Vol. 64 (4), pp. 265-273. Date of Electronic Publication: 2023 Jun 05 (Print Publication: 2023).

نوع المنشور: Case Reports

بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 101568557 Publication Model: eCollection Cited Medium: Print ISSN: 2192-8304 (Print) Linking ISSN: 21928304 NLM ISO Abbreviation: JIMD Rep Subsets: PubMed not MEDLINE