نتائج البحث - "Carrozzo, Rosalba"

1

Academic Journal

Biallelic variants in GTPBP3: New patients, phenotypic spectrum, and outcome

المؤلفون: Nardecchia, Francesca, Carrozzo, Rosalba, Innocenti, Alice, Torraco, Alessandra, Zaccaria, Valerio, Rizza, Teresa, Pisani, Francesco, Bertini, Enrico, Leuzzi, Vincenzo

المساهمون: Nardecchia, Francesca, Carrozzo, Rosalba, Innocenti, Alice, Torraco, Alessandra, Zaccaria, Valerio, Rizza, Teresa, Pisani, Francesco, Bertini, Enrico, Leuzzi, Vincenzo

مصطلحات موضوعية: GTPBP3, COXPD23, mitochondrial disease

Relation: info:eu-repo/semantics/altIdentifier/pmid/38327089; info:eu-repo/semantics/altIdentifier/wos/WOS:001158486800001; journal:ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY; https://hdl.handle.net/11573/1705542; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85184427226

الاتاحة: https://hdl.handle.net/11573/1705542
https://doi.org/10.1002/acn3.51980

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2

Academic Journal

Case report: A safeguard in the sea of variants of uncertain significance: a case study on child with high risk neuroblastoma and acute myeloid leukemia

المؤلفون: Fabozzi, Francesco, Carrozzo, Rosalba, Lodi, Mariachiara, Di Giannatale, Angela, Cipri, Selene, Rosignoli, Chiara, Giovannoni, Isabella, Stracuzzi, Alessandra, Rizza, Teresa, Montante, Claudio, Agolini, Emanuele, Di Nottia, Michela, Galaverna, Federica, Del Baldo, Giada, Del Bufalo, Francesco, Mastronuzzi, Angela, De Ioris, Maria Antonietta

المصدر: Frontiers in Oncology ; volume 13 ; ISSN 2234-943X

الاتاحة: http://dx.doi.org/10.3389/fonc.2023.1324013
https://www.frontiersin.org/articles/10.3389/fonc.2023.1324013/full

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3

Academic Journal

Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy

المؤلفون: Brugger, Melanie, Lauri, Antonella, Zhen, Yan, Gramegna, Laura L., Zott, Benedikt, Sekulić, Nikolina, Fasano, Giulia, Kopajtich, Robert, Cordeddu, Viviana, Radio, Francesca Clementina, Mancini, Cecilia, Pizzi, Simone, Paradisi, Graziamaria, Zanni, Ginevra, Vasco, Gessica, Carrozzo, Rosalba, Palombo, Flavia, Tonon, Caterina, Lodi, Raffaele, La Morgia, Chiara, Arelin, Maria, Blechschmidt, Cristiane, Finck, Tom, Sørensen, Vigdis, Kreiser, Kornelia, Strobl-Wildemann, Gertrud, Daum, Hagit, Michaelson-Cohen, Rachel, Ziccardi, Lucia, Zampino, Giuseppe, Prokisch, Holger, Abou Jamra, Rami, Fiorini, Claudio, Arzberger, Thomas, Winkelmann, Juliane, Caporali, Leonardo, Carelli, Valerio, Stenmark, Harald, Tartaglia, Marco, Wagner, Matias

المساهمون: Ministero della Salute, Hertie Foundation, Istituto Superiore di Sanita, Ministero dell'Istruzione dell'Universita e della Ricerca

المصدر: The American Journal of Human Genetics ; volume 111, issue 3, page 594-613 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2024.02.005
https://api.elsevier.com/content/article/PII:S0002929724000375?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929724000375?httpAccept=text/plain

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4

Academic Journal

From leigh syndrome to isolated optic neuropathy: A new piece to the mitochondrial complex I genetic puzzle

المؤلفون: Caporali, Leonardo, Fiorini, Claudio, Jurkute, Neringa, Torraco, Alessandra, Yu‐Wai‐Man, Patrick, Carelli, Valerio, Carrozzo, Rosalba, Arno, Gavin

المصدر: Acta Ophthalmologica ; volume 103, issue S284 ; ISSN 1755-375X 1755-3768

الاتاحة: https://doi.org/10.1111/aos.16929

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5

Academic Journal

Imaging-Based Molecular Interaction Between Src and Lamin A/C Mechanosensitive Proteins in the Nucleus of Laminopathic Cells.

المؤلفون: Petrini, Stefania, Bagnato, Giulia, Piccione, Michela, D'Oria, Valentina, Apollonio, Valentina, Cappa, Marco, Castiglioni, Claudia, Santorelli, Filippo Maria, Rizza, Teresa, Carrozzo, Rosalba, Bertini, Enrico Silvio, Peruzzi, Barbara

المصدر: International Journal of Molecular Sciences; Dec2024, Vol. 25 Issue 24, p13365, 12p

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6

Academic Journal

Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement

المؤلفون: Kaiyrzhanov, Rauan, Mohammed, Sami E.M., Maroofian, Reza, Husain, Ralf A., Catania, Alessia, Torraco, Alessandra, Alahmad, Ahmad, Dutra-Clarke, Marina, Grønborg, Sabine, Sudarsanam, Annapurna, Vogt, Julie, Arrigoni, Filippo, Baptista, Julia, Haider, Shahzad, Feichtinger, René G., Bernardi, Paolo, Zulian, Alessandra, Gusic, Mirjana, Efthymiou, Stephanie, Bai, Renkui, Bibi, Farah, Horga, Alejandro, Martinez-Agosto, Julian A., Lam, Amanda, Manole, Andreea, Rodriguez, Diego-Perez, Durigon, Romina, Pyle, Angela, Albash, Buthaina, Dionisi-Vici, Carlo, Murphy, David, Martinelli, Diego, Bugiardini, Enrico, Allis, Katrina, Lamperti, Costanza, Reipert, Siegfried, Risom, Lotte, Laugwitz, Lucia, Di Nottia, Michela, McFarland, Robert, Vilarinho, Laura, Hanna, Michael, Prokisch, Holger, Mayr, Johannes A., Bertini, Enrico Silvio, Ghezzi, Daniele, Østergaard, Elsebet, Wortmann, Saskia B., Carrozzo, Rosalba, Haack, Tobias B., Taylor, Robert W., Spinazzola, Antonella, Nowikovsky, Karin, Houlden, Henry

مصطلحات موضوعية: LETM1, Wolf-Hirschhorn Syndrome, Genetics, Mitochondria, Mitochondrial Diseases, Neurodegeneration, Neurology, Oxidative Phosphorylation, Potassium Transport, Volume Homeostasis, Doenças Genéticas

Relation: https://www.sciencedirect.com/science/article/pii/S0002929722003111?via%3Dihub; Am J Hum Genet. 2022 Sep 1;109(9):1692-1712. doi:10.1016/j.ajhg.2022.07.007; http://hdl.handle.net/10400.18/8559

الاتاحة: http://hdl.handle.net/10400.18/8559
https://doi.org/10.1016/j.ajhg.2022.07.007

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7

Academic Journal

GLUT-1 changes in paediatric Huntington disease brain cortex and fibroblasts: an observational case-control study

المؤلفون: Tramutola, Antonella, Bakels, Hannah S., Perrone, Federica, Di Nottia, Michela, Mazza, Tommaso, Abruzzese, Maria Pia, Zoccola, Martina, Pagnotta, Sara, Carrozzo, Rosalba, de Bot, Susanne T., Perluigi, Marzia, van Roon-Mom, Willeke M.C., Squitieri, Ferdinando

المصدر: eBioMedicine ; volume 97, page 104849 ; ISSN 2352-3964

الاتاحة: http://dx.doi.org/10.1016/j.ebiom.2023.104849
https://api.elsevier.com/content/article/PII:S2352396423004152?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2352396423004152?httpAccept=text/plain

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8

Academic Journal

A novel homozygous variant in COX5A causes an attenuated phenotype with failure to thrive, lactic acidosis, hypoglycemia, and short stature

المؤلفون: Torraco, Alessandra, Morlino, Silvia, Rizza, Teresa, Di Nottia, Michela, Bottaro, Giorgia, Bisceglia, Luigi, Montanari, Arianna, Cappa, Marco, Castori, Marco, Bertini, Enrico, Carrozzo, Rosalba

المساهمون: Torraco, Alessandra, Morlino, Silvia, Rizza, Teresa, Di Nottia, Michela, Bottaro, Giorgia, Bisceglia, Luigi, Montanari, Arianna, Cappa, Marco, Castori, Marco, Bertini, Enrico, Carrozzo, Rosalba

مصطلحات موضوعية: COX5A, cytochrome c oxidase, mitochondrial disorder, supercomplexes

Relation: info:eu-repo/semantics/altIdentifier/pmid/35246835; info:eu-repo/semantics/altIdentifier/wos/WOS:000766377300001; volume:102; issue:1; firstpage:56; lastpage:60; numberofpages:5; journal:CLINICAL GENETICS; https://hdl.handle.net/11573/1705503; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85125935193

الاتاحة: https://hdl.handle.net/11573/1705503
https://doi.org/10.1111/cge.14127

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9

Academic Journal

Severe mitochondrial encephalomyopathy caused by de novo variants in OPA1 gene.

المؤلفون: Di Nottia, Michela, Rizza, Teresa, Baruffini, Enrico, Nesti, Claudia, Torraco, Alessandra, Diodato, Daria, Martinelli, Diego, Canto, Flavio Dal, Gilea, Alexandru Ionut, Zoccola, Martina, Siri, Barbara, Dionisi-Vici, Carlo, Bertini, Enrico, Santorelli, Filippo Maria, Goffrini, Paola, Carrozzo, Rosalba

المصدر: Frontiers in Genetics; 2024, p1-11, 11p

مصطلحات موضوعية: MITOCHONDRIAL dynamics, MITOCHONDRIAL DNA, GENETIC variation, GENETIC mutation, FISSION (Asexual reproduction)

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10

Academic Journal

Biallelic CLPB mutation associated with isolated neutropenia and 3-MGA-uria

المؤلفون: Rivalta, Beatrice, Torraco, Alessandra, Martinelli, Diego, Luciani, Matteo, Carrozzo, Rosalba, Finocchi, Andrea

المساهمون: Rivalta, B, Torraco, A, Martinelli, D, Luciani, M, Carrozzo, R, Finocchi, A

مصطلحات موضوعية: Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA

Relation: info:eu-repo/semantics/altIdentifier/pmid/35616898; info:eu-repo/semantics/altIdentifier/wos/WOS:000800302600002; volume:33; issue:5; journal:PEDIATRIC ALLERGY AND IMMUNOLOGY; https://hdl.handle.net/2108/310238; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85130853055

الاتاحة: https://hdl.handle.net/2108/310238
https://doi.org/10.1111/pai.13782

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11

Academic Journal

Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement

المؤلفون: Kaiyrzhanov, Rauan, Mohammed, Sami EM, Maroofian, Reza, Husain, Ralf A, Catania, Alessia, Torraco, Alessandra, Alahmad, Ahmad, Dutra-Clarke, Marina, Grønborg, Sabine, Sudarsanam, Annapurna, Vogt, Julie, Arrigoni, Filippo, Baptista, Julia, Haider, Shahzad, Feichtinger, René G, Bernardi, Paolo, Zulian, Alessandra, Gusic, Mirjana, Efthymiou, Stephanie, Bai, Renkui, Bibi, Farah, Horga, Alejandro, Martinez-Agosto, Julian A, Lam, Amanda, Manole, Andreea, Rodriguez, Diego-Perez, Durigon, Romina, Pyle, Angela, Albash, Buthaina, Dionisi-Vici, Carlo, Murphy, David, Martinelli, Diego, Bugiardini, Enrico, Allis, Katrina, Lamperti, Costanza, Reipert, Siegfried, Risom, Lotte, Laugwitz, Lucia, Di Nottia, Michela, McFarland, Robert, Vilarinho, Laura, Hanna, Michael, Prokisch, Holger, Mayr, Johannes A, Bertini, Enrico Silvio, Ghezzi, Daniele, Østergaard, Elsebet, Wortmann, Saskia B, Carrozzo, Rosalba, Haack, Tobias B, Taylor, Robert W, Spinazzola, Antonella, Nowikovsky, Karin, Houlden, Henry

المصدر: American Journal of Human Genetics , 109 (9) pp. 1692-1712. (2022)

مصطلحات موضوعية: LETM1, Wolf-Hirschhorn syndrome, genetics, mitochondria, mitochondrial diseases, neurodegeneration, neurology, oxidative phosphorylation, potassium transport, volume homeostasis

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10155215/1/Bi-allelic%20LETM1%20variants%20perturb%20mitochondrial%20ion%20homeostasis.pdf; https://discovery.ucl.ac.uk/id/eprint/10155215/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10155215/1/Bi-allelic%20LETM1%20variants%20perturb%20mitochondrial%20ion%20homeostasis.pdf
https://discovery.ucl.ac.uk/id/eprint/10155215/

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12

Academic Journal

The ataxia-linked E1081Q mutation affects the sub-plasma membrane Ca2+-microdomains by tuning PMCA3 activity

المساهمون: Università degli Studi di Padova

المصدر: Cell Death & Disease ; volume 13, issue 10 ; ISSN 2041-4889

الاتاحة: http://dx.doi.org/10.1038/s41419-022-05300-y
https://www.nature.com/articles/s41419-022-05300-y.pdf
https://www.nature.com/articles/s41419-022-05300-y

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13

Academic Journal

Novel dilated cardiomyopathy associated to Calreticulin and Myo7A gene mutation in Usher syndrome

المؤلفون: Frustaci, Andrea, De Luca, Alessandro, Galea, Nicola, Verardo, Romina, Guida, Valentina, Carrozzo, Rosalba, Chimenti, Cristina, Frustaci, Emanuela, Sansone, Luigi, Russo, Matteo Antonio

المساهمون: Frustaci, Andrea, De Luca, Alessandro, Galea, Nicola, Verardo, Romina, Guida, Valentina, Carrozzo, Rosalba, Chimenti, Cristina, Frustaci, Emanuela, Sansone, Luigi, Russo, Matteo Antonio

مصطلحات موضوعية: CALR, calreticulin, cardiomyocyte disconnection, MYO7A, Usher syndrome

Relation: info:eu-repo/semantics/altIdentifier/pmid/33835720; info:eu-repo/semantics/altIdentifier/wos/WOS:000638191000001; volume:8; issue:3; firstpage:2310; lastpage:2315; numberofpages:6; journal:ESC HEART FAILURE; https://hdl.handle.net/11573/1682032; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85104082564

الاتاحة: https://hdl.handle.net/11573/1682032
https://doi.org/10.1002/ehf2.13260

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14

Academic Journal

De Novo DNM1L Mutation in a Patient with Encephalopathy, Cardiomyopathy and Fatal Non-Epileptic Paroxysmal Refractory Vomiting.

المؤلفون: Berti, Beatrice, Verrigni, Daniela, Nasca, Alessia, Di Nottia, Michela, Leone, Daniela, Torraco, Alessandra, Rizza, Teresa, Bellacchio, Emanuele, Legati, Andrea, Palermo, Concetta, Marchet, Silvia, Lamperti, Costanza, Novelli, Antonio, Mercuri, Eugenio Maria, Bertini, Enrico Silvio, Pane, Marika, Ghezzi, Daniele, Carrozzo, Rosalba

المصدر: International Journal of Molecular Sciences; Jul2024, Vol. 25 Issue 14, p7782, 9p

مصطلحات موضوعية: MITOCHONDRIAL dynamics, CELL respiration, BRAIN diseases, GENETIC variation, CARDIOMYOPATHIES, FAMILIAL spastic paraplegia, RESPIRATION in plants, HEART, SUDDEN death

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15

Academic Journal

Systematic analysis of NDUFAF6 in complex I assembly and mitochondrial disease

المؤلفون: Sung, Andrew Y., Guerra, Rachel M., Steenberge, Laura H., Alston, Charlotte L., Murayama, Kei, Okazaki, Yasushi, Shimura, Masaru, Prokisch, Holger, Ghezzi, Daniele, Torraco, Alessandra, Carrozzo, Rosalba, Rötig, Agnès, Taylor, Robert W., Keck, James L., Pagliarini, David J.

المصدر: Nature Metabolism ; ISSN 2522-5812

الاتاحة: http://dx.doi.org/10.1038/s42255-024-01039-2
https://www.nature.com/articles/s42255-024-01039-2.pdf
https://www.nature.com/articles/s42255-024-01039-2

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16

Academic Journal

SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder

المؤلفون: Del Dotto, Valentina, Ullah, Farid, Di Meo, Ivano, Magini, Pamela, Gusic, Mirjana, Maresca, Alessandra, Caporali, Leonardo, Palombo, Flavia, Tagliavini, Francesca, Baugh, Evan Harris, Macao, Bertil, Szilagyi, Zsolt, Peron, Camille, Gustafson, Margaret A, Khan, Kamal, La Morgia, Chiara, Barboni, Piero, Carbonelli, Michele, Valentino, Maria Lucia, Liguori, Rocco, Shashi, Vandana, Sullivan, Jennifer, Nagaraj, Shashi, El-Dairi, Mays, Iannaccone, Alessandro, Cutcutache, Ioana, Bertini, Enrico, Carrozzo, Rosalba, Emma, Francesco, Diomedi-Camassei, Francesca, Zanna, Claudia, Armstrong, Martin, Page, Matthew, Stong, Nicholas, Boesch, Sylvia, Kopajtich, Robert, Wortmann, Saskia, Sperl, Wolfgang, Davis, Erica E, Copeland, William C, Seri, Marco, Falkenberg, Maria, Prokisch, Holger, Katsanis, Nicholas, Tiranti, Valeria, Pippucci, Tommaso, Carelli, Valerio

المساهمون: Del Dotto, Valentina, Ullah, Farid, Di Meo, Ivano, Magini, Pamela, Gusic, Mirjana, Maresca, Alessandra, Caporali, Leonardo, Palombo, Flavia, Tagliavini, Francesca, Baugh, Evan Harri, Macao, Bertil, Szilagyi, Zsolt, Peron, Camille, Gustafson, Margaret A, Khan, Kamal, La Morgia, Chiara, Barboni, Piero, Carbonelli, Michele, Valentino, Maria Lucia, Liguori, Rocco, Shashi, Vandana, Sullivan, Jennifer, Nagaraj, Shashi, El-Dairi, May, Iannaccone, Alessandro, Cutcutache, Ioana, Bertini, Enrico, Carrozzo, Rosalba, Emma, Francesco, Diomedi-Camassei, Francesca, Zanna, Claudia, Armstrong, Martin, Page, Matthew, Stong, Nichola, Boesch, Sylvia, Kopajtich, Robert, Wortmann, Saskia, Sperl, Wolfgang, Davis, Erica E, Copeland, William C, Seri, Marco, Falkenberg, Maria, Prokisch, Holger, Katsanis, Nichola, Tiranti, Valeria, Pippucci, Tommaso, Carelli, Valerio

مصطلحات موضوعية: Bioenergetic, Genetic disease, Genetic, Mitochondria, Ophthalmology

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/31550240; info:eu-repo/semantics/altIdentifier/wos/WOS:000505205000020; volume:130; issue:1; firstpage:108; lastpage:125; numberofpages:18; journal:THE JOURNAL OF CLINICAL INVESTIGATION; https://hdl.handle.net/11585/736136; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85077402068; https://www.jci.org/articles/view/128514

الاتاحة: https://hdl.handle.net/11585/736136
https://doi.org/10.1172/JCI128514
https://www.jci.org/articles/view/128514

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17

Academic Journal

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

المؤلفون: Radio, Francesca Clementina, Pang, Kaifang, Ciolfi, Andrea, Levy, Michael A., Hernández-García, Andrés, Pedace, Lucia, Pantaleoni, Francesca, Liu, Zhandong, de Boer, Elke, Jackson, Adam, Bruselles, Alessandro, McConkey, Haley, Stellacci, Emilia, Lo Cicero, Stefania, Motta, Marialetizia, Carrozzo, Rosalba, Dentici, Maria Lisa, McWalter, Kirsty, Desai, Megha, Monaghan, Kristin G., Telegrafi, Aida, Philippe, Christophe, Vitobello, Antonio, Au, Margaret, Grand, Katheryn, Sanchez-Lara, Pedro A., Baez, Joanne, Lindstrom, Kristin, Kulch, Peggy, Sebastian, Jessica, Madan-Khetarpal, Suneeta, Roadhouse, Chelsea, MacKenzie, Jennifer J., Monteleone, Berrin, Saunders, Carol J., Jean Cuevas, July K., Cross, Laura, Zhou, Dihong, Hartley, Taila, Sawyer, Sarah L., Monteiro, Fabíola Paoli, Secches, Tania Vertemati, Kok, Fernando, Schultz-Rogers, Laura E., Macke, Erica L., Morava, Eva, Klee, Eric W., Kemppainen, Jennifer, Iascone, Maria, Selicorni, Angelo, Tenconi, Romano, Amor, David J., Pais, Lynn, Gallacher, Lyndon, Turnpenny, Peter D., Stals, Karen, Ellard, Sian, Cabet, Sara, Lesca, Gaetan, Pascal, Joset, Steindl, Katharina, Ravid, Sarit, Weiss, Karin, Castle, Alison M.R., Carter, Melissa T., Kalsner, Louisa, de Vries, Bert B.A., van Bon, Bregje W., Wevers, Marijke R., Pfundt, Rolph, Stegmann, Alexander P.A., Kerr, Bronwyn, Kingston, Helen M., Chandler, Kate E., Sheehan, Willow, Elias, Abdallah F., Shinde, Deepali N., Towne, Meghan C., Robin, Nathaniel H., Goodloe, Dana, Vanderver, Adeline, Sherbini, Omar, Bluske, Krista, Hagelstrom, R. Tanner, Zanus, Caterina, Faletra, Flavio, Musante, Luciana, Kurtz-Nelson, Evangeline C., Earl, Rachel K., Anderlid, Britt Marie, Morin, Gilles, van Slegtenhorst, Marjon, Diderich, Karin E.M., Brooks, Alice S., Gribnau, Joost, Boers, Ruben G., Finestra, Teresa Robert, Carter, Lauren B., Rauch, Anita, Gasparini, Paolo, Boycott, Kym M., Barakat, Tahsin Stefan, Graham, John M., Faivre, Laurence, Banka, Siddharth, Wang, Tianyun, Eichler, Evan E., Priolo, Manuela, Dallapiccola, Bruno, Vissers, Lisenka E.L.M., Sadikovic, Bekim, Scott, Daryl A., Holder, Jimmy Lloyd, Tartaglia, Marco

المصدر: Radio , F C , Pang , K , Ciolfi , A , Levy , M A , Hernández-García , A , Pedace , L , Pantaleoni , F , Liu , Z , de Boer , E , Jackson , A , Bruselles , A , McConkey , H , Stellacci , E , Lo Cicero , S , Motta , M , Carrozzo , R , Dentici , M L , McWalter , K , Desai , M , Monaghan , K G , Telegrafi , A , Philippe , C , Vitobello , A , Au ....

مصطلحات موضوعية: /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, name=SDG 3 - Good Health and Well-being

وصف الملف: application/pdf

الاتاحة: https://pure.eur.nl/en/publications/6c5a2968-0de0-4074-8849-a2d72291e184
https://doi.org/10.1016/j.ajhg.2021.01.015
https://pure.eur.nl/ws/files/53889029/SPEN_haploinsufficiency_causes_a_neurodevelopmental_disorder_overlapping_proximal_1p36_deletion_syndrome_with_an_episignature_of_X_chromosomes_in_females.pdf
http://www.scopus.com/inward/record.url?scp=85101770406&partnerID=8YFLogxK

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