المؤلفون: Alistair Pagnamenta, Hossein Najmabadi, Ana Lucia Yañez Felix

المصدر: Clinical Genetics.

مصطلحات موضوعية: Genetics, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::6590cfad81b6fbfe2c60e9ed494ae405Test
https://doi.org/10.1111/cge.14324Test

المؤلفون: Pagnamenta, Alistair T.¹ (AUTHOR) alistair@well.ox.ac.uk, Belles, Rebecca S.² (AUTHOR), Salbert, Bonnie Anne² (AUTHOR), Wentzensen, Ingrid M.³ (AUTHOR), Guillen Sacoto, Maria J.³ (AUTHOR), Santos, Francis Jeshira Reynoso^4,5 (AUTHOR), Caffo, Alesky⁴ (AUTHOR), Ferla, Matteo¹ (AUTHOR), Banos‐Pinero, Benito⁶ (AUTHOR), Pawliczak, Karolina⁷ (AUTHOR), Makvand, Mina⁸ (AUTHOR), Najmabadi, Hossein^8,9 (AUTHOR), Maroofian, Reza¹⁰ (AUTHOR), Lester, Tracy⁶ (AUTHOR), Yanez‐Felix, Ana Lucia¹¹ (AUTHOR), Villarroel‐Cortes, Camilo E.¹¹ (AUTHOR), Xia, Fan¹² (AUTHOR), Al Fayez, Khowla¹³ (AUTHOR), Al Hashem, Amal¹³ (AUTHOR), Shears, Deborah¹⁴ (AUTHOR)

المصدر: Clinical Genetics. Jul2023, Vol. 104 Issue 1, p121-126. 6p.

مصطلحات موضوعية: *SKELETAL dysplasia, *HEDGEHOG signaling proteins, *PHENOTYPES, *MISSENSE mutation, *GENETIC variation, *DYSPLASIA

المؤلفون: Hashim, Mona, Stewart, Helen, Yu, Jing, Banos‐Pinero, Benito, Pagnamenta, Alistair T., Taylor, Jenny C.

المصدر: Clinical Genetics; Sep2023, Vol. 104 Issue 3, p390-392, 3p

مصطلحات موضوعية: CONGENITAL hip dislocation, SYNDROMES, GENETIC variation, WHOLE genome sequencing, GENE libraries, BRUGADA syndrome, GENOMES

المؤلفون: Pagnamenta, Alistair T.¹ (AUTHOR), Jackson, Adam^2,3 (AUTHOR), Perveen, Rahat² (AUTHOR), Beaman, Glenda² (AUTHOR), Petts, Gemma⁴ (AUTHOR), Gupta, Asheeta⁵ (AUTHOR), Hyder, Zerin² (AUTHOR), Chung, Brian Hon‐Yin⁶ (AUTHOR), Kan, Anita Sik‐Yau⁷ (AUTHOR), Cheung, Ka Wang⁷ (AUTHOR), Kerstjens‐Frederikse, Wilhelmina S.⁸ (AUTHOR), Abbott, Kristin M.⁸ (AUTHOR), Elpeleg, Orly⁹ (AUTHOR), Taylor, Jenny C.¹ (AUTHOR), Banka, Siddharth^2,3 (AUTHOR) siddharth.banka@manchester.ac.uk, Ta‐Shma, Asaf¹⁰ (AUTHOR) atashma@gmail.com

المصدر: Clinical Genetics. Jan2022, Vol. 101 Issue 1, p127-133. 7p.

مصطلحات موضوعية: *CONGENITAL heart disease, *VENTRICULAR septal defects, *POLYCYSTIC kidney disease, *HEART abnormalities, *PHENOTYPES, *CONGENITAL disorders

المؤلفون: Pagnamenta, Alistair T.¹, Kaisaki, Pamela J.¹, Bennett, Fenella¹, Burkitt‐Wright, Emma², Martin, Hilary C.³, Ferla, Matteo P.¹, Taylor, John M.⁴, Gompertz, Lianne², Lahiri, Nayana⁵, Tatton‐Brown, Katrina⁵, Newbury‐Ecob, Ruth⁶, Henderson, Alex⁷, Joss, Shelagh⁸, Weber, Astrid⁹, Carmichael, Jenny¹⁰, Turnpenny, Peter D.¹¹, McKee, Shane¹², Forzano, Francesca¹³, Ashraf, Tazeen¹³, Bradbury, Kimberley¹³

المصدر: Clinical Genetics. Jun2019, Vol. 95 Issue 6, p693-703. 11p. 1 Color Photograph, 1 Diagram, 1 Chart.

مصطلحات موضوعية: *NOONAN syndrome, *NUCLEOTIDE sequencing, *GENE expression, *PECTUS excavatum, *HYPERTROPHIC cardiomyopathy

المؤلفون: Lange, L.¹, Pagnamenta, A. T.¹, Lise, S.¹, Clasper, S.², Stewart, H.³, Akha, E. S.¹, Quaghebeur, G.⁴, Knight, S. J. L.¹, Keays, D. A.⁵, Taylor, J. C.¹, Kini, U.³

المصدر: Clinical Genetics. Sep2016, Vol. 90 Issue 3, p258-262. 6p.

مصطلحات موضوعية: *FRAMESHIFT mutation, *PROTEIN genetics, *NUCLEOPROTEINS, *KABUKI syndrome, *MULTIPLE human abnormalities, *CARRIER proteins

المؤلفون: L, Lange, A T, Pagnamenta, S, Lise, S, Clasper, H, Stewart, E S, Akha, G, Quaghebeur, S J L, Knight, D A, Keays, J C, Taylor, U, Kini

المصدر: Clinical Genetics

مصطلحات موضوعية: Male, 0301 basic medicine, heterotopia, medicine.medical_specialty, Developmental Disabilities, Short Report, 030105 genetics & heredity, Nervous System Malformations, Bioinformatics, Frameshift mutation, Heterogeneous-Nuclear Ribonucleoprotein K, 03 medical and health sciences, Short Reports, Intellectual Disability, Intellectual disability, Genetics, Humans, Medicine, Abnormalities, Multiple, Exome, Frameshift Mutation, Genetics (clinical), Exome sequencing, Loss function, Base Sequence, HNRNPK, business.industry, Kabuki, medicine.disease, Hematologic Diseases, 3. Good health, 030104 developmental biology, Heterotopia (medicine), Ribonucleoproteins, Vestibular Diseases, Face, Medical genetics, Female, business, Kabuki syndrome

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5331dba2a1e517817e8d93d8bfa1c189Test