Zobrazeno 1 - 10
of 52
pro vyhledávání: '"Grace M Hobson"'
Autor:
Christine R Beck, Claudia M B Carvalho, Linda Banser, Tomasz Gambin, Danielle Stubbolo, Bo Yuan, Karen Sperle, Suzanne M McCahan, Marco Henneke, Pavel Seeman, James Y Garbern, Grace M Hobson, James R Lupski
Publikováno v:
PLoS Genetics, Vol 11, Iss 3, p e1005050 (2015)
Inverted repeats (IRs) can facilitate structural variation as crucibles of genomic rearrangement. Complex duplication-inverted triplication-duplication (DUP-TRP/INV-DUP) rearrangements that contain breakpoint junctions within IRs have been recently a
Externí odkaz:
https://doaj.org/article/69485bbb44444f2b9c70070509172664
Autor:
Guy Helman, Bryan R. Lajoie, Joanna Crawford, Asako Takanohashi, Marzena Walkiewicz, Egor Dolzhenko, Andrew M. Gross, Vladimir G. Gainullin, Stephen J. Bent, Emma M. Jenkinson, Sacha Ferdinandusse, Hans R. Waterham, Imen Dorboz, Enrico Bertini, Noriko Miyake, Nicole I. Wolf, Truus E. M. Abbink, Susan M. Kirwin, Christina M. Tan, Grace M. Hobson, Long Guo, Shiro Ikegawa, Amy Pizzino, Johanna L. Schmidt, Genevieve Bernard, Raphael Schiffmann, Marjo S. van derKnaap, Cas Simons, Ryan J. Taft, Adeline Vanderver
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 1, Pp 144-152 (2020)
Abstract Genetic white matter disorders have heterogeneous etiologies and overlapping clinical presentations. We performed a study of the diagnostic efficacy of genome sequencing in 41 unsolved cases with prior exome sequencing, resolving an addition
Externí odkaz:
https://doaj.org/article/b313ae0552894ab4b545c7fc6b8eee71
Autor:
Vahid Bahrambeigi, Xiaofei Song, Karen Sperle, Christine R. Beck, Hadia Hijazi, Christopher M. Grochowski, Shen Gu, Pavel Seeman, Karen J. Woodward, Claudia M. B. Carvalho, Grace M. Hobson, James R. Lupski
Publikováno v:
Genome Medicine, Vol 11, Iss 1, Pp 1-17 (2019)
Abstract Background We investigated the features of the genomic rearrangements in a cohort of 50 male individuals with proteolipid protein 1 (PLP1) copy number gain events who were ascertained with Pelizaeus-Merzbacher disease (PMD; MIM: 312080). We
Externí odkaz:
https://doaj.org/article/e62010d3a4f7460980eda6cd0e59006b
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 12, Iss , Pp 420-432 (2018)
DNA variants of the proteolipid protein 1 gene (PLP1) that shift PLP1/DM20 alternative splicing away from the PLP1 form toward DM20 cause the allelic X-linked leukodystrophies Pelizaeus-Merzbacher disease (PMD), spastic paraplegia 2 (SPG2), and hypom
Externí odkaz:
https://doaj.org/article/ae4b04d5955d4494bee09829f7158e04
Autor:
Hadia Hijazi, Linda M. Reis, Davut Pehlivan, Jonathan A. Bernstein, Michael Muriello, Erin Syverson, Devon Bonner, Mehrdad A. Estiar, Ziv Gan-Or, Guy A. Rouleau, Ekaterina Lyulcheva, Lynn Greenhalgh, Marine Tessarech, Estelle Colin, Agnès Guichet, Dominique Bonneau, R.H. van Jaarsveld, A.M.A. Lachmeijer, Lyse Ruaud, Jonathan Levy, Anne-Claude Tabet, Rafal Ploski, Małgorzata Rydzanicz, Łukasz Kępczyński, Katarzyna Połatyńska, Yidan Li, Jawid M. Fatih, Dana Marafi, Jill A. Rosenfeld, Zeynep Coban-Akdemir, Weimin Bi, Richard A. Gibbs, Grace M. Hobson, Jill V. Hunter, Claudia M.B. Carvalho, Jennifer E. Posey, Elena V. Semina, James R. Lupski
Publikováno v:
Am J Hum Genet
An Xq22.2 region upstream of PLP1 has been proposed to underly a neurological disease trait when deleted in 46,XX females. Deletion mapping revealed that heterozygous deletions encompassing the smallest region of overlap (SRO) spanning six Xq22.2 gen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d3b61ee89f14b3694fc324655a475d07
https://doi.org/10.1016/j.ajhg.2022.10.007
https://doi.org/10.1016/j.ajhg.2022.10.007
Autor:
Emma M. Jenkinson, Imen Dorboz, Marzena Walkiewicz, Vladimir G. Gainullin, Guy Helman, Raphael Schiffmann, Long Guo, Shiro Ikegawa, Johanna L. Schmidt, Egor Dolzhenko, Christina M. Tan, Marjo S. van der Knaap, Ryan J. Taft, Noriko Miyake, Hans R. Waterham, Nicole I. Wolf, Geneviève Bernard, Adeline Vanderver, Grace M. Hobson, Sacha Ferdinandusse, Joanna Crawford, Asako Takanohashi, Stephen J. Bent, Andrew M. Gross, Cas Simons, Truus E.M. Abbink, Enrico Bertini, Susan M. Kirwin, Bryan R. Lajoie, Amy Pizzino
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 1, Pp 144-152 (2020)
Helman, G, Lajoie, B R, Crawford, J, Takanohashi, A, Walkiewicz, M, Dolzhenko, E, Gross, A M, Gainullin, V G, Bent, S J, Jenkinson, E M, Ferdinandusse, S, Waterham, H R, Dorboz, I, Bertini, E, Miyake, N, Wolf, N I, Abbink, T E M, Kirwin, S M, Tan, C M, Hobson, G M, Guo, L, Ikegawa, S, Pizzino, A, Schmidt, J L, Bernard, G, Schiffmann, R, van der Knaap, M S, Simons, C, Taft, R J & Vanderver, A 2020, ' Genome sequencing in persistently unsolved white matter disorders ', Annals of Clinical and Translational Neurology, vol. 7, no. 1, pp. 144-152 . https://doi.org/10.1002/acn3.50957
Annals of Clinical and Translational Neurology, 7(1), 144-152. John Wiley and Sons Ltd
Annals of Clinical and Translational Neurology
Annals of clinical and translational neurology, 7(1), 144-152. John Wiley and Sons Ltd
Helman, G, Lajoie, B R, Crawford, J, Takanohashi, A, Walkiewicz, M, Dolzhenko, E, Gross, A M, Gainullin, V G, Bent, S J, Jenkinson, E M, Ferdinandusse, S, Waterham, H R, Dorboz, I, Bertini, E, Miyake, N, Wolf, N I, Abbink, T E M, Kirwin, S M, Tan, C M, Hobson, G M, Guo, L, Ikegawa, S, Pizzino, A, Schmidt, J L, Bernard, G, Schiffmann, R, van der Knaap, M S, Simons, C, Taft, R J & Vanderver, A 2020, ' Genome sequencing in persistently unsolved white matter disorders ', Annals of Clinical and Translational Neurology, vol. 7, no. 1, pp. 144-152 . https://doi.org/10.1002/acn3.50957
Annals of Clinical and Translational Neurology, 7(1), 144-152. John Wiley and Sons Ltd
Annals of Clinical and Translational Neurology
Annals of clinical and translational neurology, 7(1), 144-152. John Wiley and Sons Ltd
Genetic white matter disorders have heterogeneous etiologies and overlapping clinical presentations. We performed a study of the diagnostic efficacy of genome sequencing in 41 unsolved cases with prior exome sequencing, resolving an additional 14 fro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c25176eff0176cb4ea5a1b975cb911f5
https://doi.org/10.1002/acn3.50957
https://doi.org/10.1002/acn3.50957
Autor:
Melanie A. Manning, Ping Fang, Julie R. Jones, Patricia A. Wight, Ken Inoue, Feng Zhang, James R. Lupski, Claudia M.B. Carvalho, Angelique Davis-Williams, Sakku Bai Naidu, Andrea Poretti, Soe Mar, Davut Pehlivan, Carly Jornlin, Hadia Hijazi, Fernanda S. Coelho, Xiaofei Song, Pankaj Patyal, Siddharth Srivastava, Claudia Gonzaga-Jauregui, Grace M. Hobson, Jennifer R. Taube, Barbara Torres, Laura Bernardini, Jennifer A. Lee, Michael J. Friez, Thomas Alberico, Andrea Hanson-Kahn, Sau Wai Cheung
Publikováno v:
Human Mutation. 41:150-168
Xq22 deletions that encompass PLP1 (Xq22-PLP1-DEL) are notable for variable expressivity of neurological disease traits in females ranging from a mild late-onset form of spastic paraplegia type 2 (MIM# 312920), sometimes associated with skewed X-inac
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::423d7100f94d7f74a7d5bf50aa5f936b
https://doi.org/10.1002/humu.23902
https://doi.org/10.1002/humu.23902
Autor:
Petter Strømme, Ferda Ozkinay, Heike Philippi, Pontus Wasling, Sebastien Moutton, Dagmar Timmann, Maria Vázquez-López, Pedro S Pinto, Annette Bley, A. Blaschek, Gabriel Á. Martos-Moreno, A. Micheil Innes, Alan Hill, Argirios Dinopoulos, Fiona Haslam McKenzie, Janice M. Fletcher, Barbara Plecko, Hanna Mierzewska, Matthis Synofzik, Cathy A. Stevens, Raphael Schiffmann, Janina Gburek-Augustat, Miriam Nickel, Constantin Polychronakos, Kether Guerrero, Susan M. Kirwin, Icíar Cimas, Inga Harting, Bwee Tien Poll-The, Vera Popovic, Coriene E. Catsman-Berrevoets, Simona Orcesi, Nicole I. Wolf, Laura Roos, Grace M. Hobson, Norberto Rodriguez Espinosa, Gert Wiegand, Bernard Brais, Julia Rankin, Marjo S. van der Knaap, Cyril Goizet, Michelle Demos, Sandra Pekic, Ingrid Tejera-Martin, Adeline Vanderver, Stefanie Perrier, Brent L. Fogel, Eriskay Liston, Meriel McEntagart, Ferdy K. Cayami, Bart P.C. van de Warrenburg, Anne Ronan, Paolo Gasparini, Bernard Corenblum, Joost Rotteveel, Mercedes Pineda Marfa, Roberta La Piana, Richard Webster, Eugen Boltshauser, Amytice Mirchi, Dietz Rating, Klara Brozova, Ingeborg Krägeloh-Mann, Marcelo Andrés Kauffman, Nesrin Senbil, Gerhard Kluger, Brenda Banwell, Flavio Faletra, Michel Sylvain, Urania Kotzaeridou, Tahir Atik, Raymond Fernandez, Stephan Saikali, William S. Benko, Fernando I Monton, Dorota Gieruszczak-Białek, Dolores Gonzalez Moron, Charles Marques Lourenço, Amy Pizzino, Ana Potic, Elsa Rossignol, Ton J. de Grauw, William T. Gibson, Luan T. Tran, Davide Tonduti, Rosalina M. L. van Spaendonk, Rocío Sánchez-Carpintero, Raymond P J Murphy, Guillaume Sébire, Daniela Pohl, Joshua L. Bonkowsky, Christopher Clough, Sandya Tirupathi, Maria Eugenia Garcia Garcia, Christoph Hertzberg, Serge Melançon, Anjum Misbahuddin, Félixe Pelletier, Evangeline Wassmer, Gail Dolan, Marie-France Rioux, Geneviève Bernard, Sunita Venkateswaran, Steffi Patzer, Aline Hamati, Helio Pedro, Hüseyin Onay, Drago Bratkovic, Petra Kolditz, Daniel Tibussek, Sakkubai Naidu, Nicole Ulrick, Emmanouil Rampakakis, William McClintock, Anna Schossig, Mohnish Suri, Grace Yoon, László Sztriha, John R. Østergaard
Publikováno v:
Pelletier, F, Perrier, S, Cayami, F K, Mirchi, A, Saikali, S, Tran, L T, Ulrick, N, Guerrero, K, Rampakakis, E, van Spaendonk, R M L, Naidu, S, Pohl, D, Gibson, W T, Demos, M, Goizet, C, Tejera-Martin, I, Potic, A, Fogel, B L, Brais, B, Sylvain, M, Sébire, G, Lourenço, C M, Bonkowsky, J L, Catsman-Berrevoets, C, Pinto, P S, Tirupathi, S, Strømme, P, de Grauw, T, Gieruszczak-Bialek, D, Krägeloh-Mann, I, Mierzewska, H, Philippi, H, Rankin, J, Atik, T, Banwell, B, Benko, W S, Blaschek, A, Bley, A, Boltshauser, E, Bratkovic, D, Brozova, K, Cimas, I, Clough, C, Corenblum, B, Dinopoulos, A, Dolan, G, Faletra, F, Fernandez, R, Fletcher, J, Garcia Garcia, M E, Gasparini, P, Gburek-Augustat, J, Gonzalez Moron, D, Hamati, A, Harting, I, Hertzberg, C, Hill, A, Hobson, G M, Innes, A M, Kauffman, M, Kirwin, S M, Kluger, G, Kolditz, P, Kotzaeridou, U, La Piana, R, Liston, E, McClintock, W, McEntagart, M, McKenzie, F, Melançon, S, Misbahuddin, A, Suri, M, Monton, F I, Moutton, S, Murphy, R P J, Nickel, M, Onay, H, Orcesi, S, Özkınay, F, Patzer, S, Pedro, H, Pekic, S, Pineda Marfa, M, Pizzino, A, Plecko, B, Poll-The, B T, Popovic, V, Rating, D, Rioux, M F, Rodriguez Espinosa, N, Ronan, A, Ostergaard, J R, Rossignol, E, Sanchez-Carpintero, R, Schossig, A, Senbil, N, Sønderberg Roos, L K, Stevens, C A, Synofzik, M, Sztriha, L, Tibussek, D, Timmann, D, Tonduti, D, van de Warrenburg, B P, Vázquez-López, M, Venkateswaran, S, Wasling, P, Wassmer, E, Webster, R I, Wiegand, G, Yoon, G, Rotteveel, J, Schiffmann, R, van der Knaap, M S, Vanderver, A, Martos-Moreno, G, Polychronakos, C, Wolf, N I & Bernard, G 2021, ' Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C ', The Journal of clinical endocrinology and metabolism, vol. 106, no. 2, pp. e660-e674 . https://doi.org/10.1210/clinem/dgaa700
Pelletier, F, Perrier, S, Cayami, F K, Mirchi, A, Saikali, S, Tran, L T, Ulrick, N, Guerrero, K, Rampakakis, E, van Spaendonk, R M L, Naidu, S, Pohl, D, Gibson, W T, Demos, M, Goizet, C, Tejera-Martin, I, Potic, A, Fogel, B L, Brais, B, Sylvain, M, Sebire, G, Lourenço, C M, Bonkowsky, J L, Catsman-Berrevoets, C, Pinto, P S, Tirupathi, S, Strømme, P, de Grauw, T, Gieruszczak-Bialek, D, Krägeloh-Mann, I, Mierzewska, H, Philippi, H, Rankin, J, Atik, T, Banwell, B, Benko, W S, Blaschek, A, Bley, A, Boltshauser, E, Bratkovic, D, Brozova, K, Cimas, I, Clough, C, Corenblum, B, Dinopoulos, A, Dolan, G, Faletra, F, Fernandez, R, Fletcher, J, Garcia Garcia, M E, Gasparini, P, Gburek-Augustat, J, Gonzalez Moron, D, Hamati, A, Harting, I, Hertzberg, C, Hill, A, Hobson, G M, Innes, A M, Kauffman, M, Kirwin, S M, Kluger, G, Kolditz, P, Kotzaeridou, U, La Piana, R, Liston, E, McClintock, W, McEntagart, M, McKenzie, F, Melançon, S, Misbahuddin, A, Suri, M, Monton, F I, Moutton, S, Murphy, R P J, Nickel, M, Onay, H, Orcesi, S, Özkınay, F, Patzer, S, Pedro, H, Pekic, S, Pineda Marfa, M, Pizzino, A, Plecko, B, Poll-The, B T, Popovic, V, Rating, D, Rioux, M-F, Rodriguez Espinosa, N, Ronan, A, Ostergaard, J R, Rossignol, E, Sanchez-Carpintero, R, Schossig, A, Senbil, N, Sønderberg Roos, L K, Stevens, C A, Synofzik, M, Sztriha, L, Tibussek, D, Timmann, D, Tonduti, D, van de Warrenburg, B P, Vázquez-López, M, Venkateswaran, S, Wasling, P, Wassmer, E, Webster, R I, Wiegand, G, Yoon, G, Rotteveel, J, Schiffmann, R, van der Knaap, M, Vanderver, A, Martos-Moreno, G Á, Polychronakos, C, Wolf, N I & Bernard, G 2021, ' Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C ', The Journal of clinical endocrinology and metabolism, vol. 106, no. 2, pp. e660-e674 . https://doi.org/10.1210/clinem/dgaa700
Journal of Clinical Endocrinology and Metabolism, 106, 2, pp. e660-e674
Journal of Clinical Endocrinology and Metabolism
Journal of Clinical Endocrinology and Metabolism, Endocrine Society, 2021, 106 (2), pp.E660-E674. ⟨10.1210/clinem/dgaa700⟩
Journal of Clinical Endocrinology and Metabolism, 106(2), E660-E674. Endocrine Society
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
The Journal of clinical endocrinology and metabolism, 106(2), e660-e674. Oxford University Press
The Journal of Clinical Endocrinology and Metabolism
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Journal of Clinical Endocrinology and Metabolism, 106, e660-e674
The Journal of clinical endocrinology and metabolism, 106(2), e660-e674. The Endocrine Society
The journal of clinical endocrinology & metabolism 106(2), e660-e674 (2021). doi:10.1210/clinem/dgaa700
Pelletier, F, Perrier, S, Cayami, F K, Mirchi, A, Saikali, S, Tran, L T, Ulrick, N, Guerrero, K, Rampakakis, E, van Spaendonk, R M L, Naidu, S, Pohl, D, Gibson, W T, Demos, M, Goizet, C, Tejera-Martin, I, Potic, A, Fogel, B L, Brais, B, Sylvain, M, Sebire, G, Lourenço, C M, Bonkowsky, J L, Catsman-Berrevoets, C, Pinto, P S, Tirupathi, S, Strømme, P, de Grauw, T, Gieruszczak-Bialek, D, Krägeloh-Mann, I, Mierzewska, H, Philippi, H, Rankin, J, Atik, T, Banwell, B, Benko, W S, Blaschek, A, Bley, A, Boltshauser, E, Bratkovic, D, Brozova, K, Cimas, I, Clough, C, Corenblum, B, Dinopoulos, A, Dolan, G, Faletra, F, Fernandez, R, Fletcher, J, Garcia Garcia, M E, Gasparini, P, Gburek-Augustat, J, Gonzalez Moron, D, Hamati, A, Harting, I, Hertzberg, C, Hill, A, Hobson, G M, Innes, A M, Kauffman, M, Kirwin, S M, Kluger, G, Kolditz, P, Kotzaeridou, U, La Piana, R, Liston, E, McClintock, W, McEntagart, M, McKenzie, F, Melançon, S, Misbahuddin, A, Suri, M, Monton, F I, Moutton, S, Murphy, R P J, Nickel, M, Onay, H, Orcesi, S, Özkınay, F, Patzer, S, Pedro, H, Pekic, S, Pineda Marfa, M, Pizzino, A, Plecko, B, Poll-The, B T, Popovic, V, Rating, D, Rioux, M-F, Rodriguez Espinosa, N, Ronan, A, Ostergaard, J R, Rossignol, E, Sanchez-Carpintero, R, Schossig, A, Senbil, N, Sønderberg Roos, L K, Stevens, C A, Synofzik, M, Sztriha, L, Tibussek, D, Timmann, D, Tonduti, D, van de Warrenburg, B P, Vázquez-López, M, Venkateswaran, S, Wasling, P, Wassmer, E, Webster, R I, Wiegand, G, Yoon, G, Rotteveel, J, Schiffmann, R, van der Knaap, M, Vanderver, A, Martos-Moreno, G Á, Polychronakos, C, Wolf, N I & Bernard, G 2021, ' Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C ', The Journal of clinical endocrinology and metabolism, vol. 106, no. 2, pp. e660-e674 . https://doi.org/10.1210/clinem/dgaa700
Journal of Clinical Endocrinology and Metabolism, 106, 2, pp. e660-e674
Journal of Clinical Endocrinology and Metabolism
Journal of Clinical Endocrinology and Metabolism, Endocrine Society, 2021, 106 (2), pp.E660-E674. ⟨10.1210/clinem/dgaa700⟩
Journal of Clinical Endocrinology and Metabolism, 106(2), E660-E674. Endocrine Society
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
The Journal of clinical endocrinology and metabolism, 106(2), e660-e674. Oxford University Press
The Journal of Clinical Endocrinology and Metabolism
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Journal of Clinical Endocrinology and Metabolism, 106, e660-e674
The Journal of clinical endocrinology and metabolism, 106(2), e660-e674. The Endocrine Society
The journal of clinical endocrinology & metabolism 106(2), e660-e674 (2021). doi:10.1210/clinem/dgaa700
Context 4H or POLR3-related leukodystrophy is an autosomal recessive disorder typically characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism, caused by biallelic pathogenic variants in POLR3A, POLR3B, POLR1C, and POLR3K. Th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1343e0c39bf5133e3bb46b5d53289c04
https://hdl.handle.net/1871.1/41a14d43-770b-4a89-bd8f-5704f4571b69
https://hdl.handle.net/1871.1/41a14d43-770b-4a89-bd8f-5704f4571b69
Autor:
Joshua L. Deignan, Guy Helman, Kirsten Blanco, Cristina da Silva, Zöe Powis, Ryan L Subaran, Jessica Nicholl, Yue Wang, Terry Fang, Rebecca Truty, Susan M. Kirwin, Allison Foley, Hane Lee, Amy Pizzino, Virginia Speare, Adeline Vanderver, John Garcia, Lora J. H. Bean, Bryan L. Krock, Johanna L. Schmidt, Grace M. Hobson, Isabelle Thiffault, Jill A. Rosenfeld, Megan T. Cho, Maggie Westemeyer, Lindsey Mighion, Ellen A. Tsai
Publikováno v:
American journal of medical genetics. Part AREFERENCES. 182(8)
Leukodystrophies are a heterogeneous group of heritable disorders characterized by abnormal brain white matter signal on magnetic resonance imaging (MRI) and primary involvement of the cellular components of myelin. Previous estimates suggest the inc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a42e5d1e567b99353a4e86b2e8958631
https://pubmed.ncbi.nlm.nih.gov/32573057
https://pubmed.ncbi.nlm.nih.gov/32573057
Autor:
Hadia Hijazi, Fernanda S. Coelho, Claudia Gonzaga‐Jauregui, Laura Bernardini, Soe S. Mar, Melanie A. Manning, Andrea Hanson‐Kahn, SakkuBai Naidu, Siddharth Srivastava, Jennifer A. Lee, Julie R. Jones, Michael J. Friez, Thomas Alberico, Barbara Torres, Ping Fang, Sau Wai Cheung, Xiaofei Song, Angelique Davis‐Williams, Carly Jornlin, Patricia A. Wight, Pankaj Patyal, Jennifer Taube, Andrea Poretti, Ken Inoue, Feng Zhang, Davut Pehlivan, Claudia M. B. Carvalho, Grace M. Hobson, James R. Lupski
Publikováno v:
Human Mutation. 41
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f411cb5524664f133d4356ccc1fedd69
https://doi.org/10.1002/humu.23967
https://doi.org/10.1002/humu.23967