Pontocerebellar hypoplasia associated with p.Arg183Trp homozygous variant in EXOSC1 gene: A case report von Damseh, Nadirah S., Obeidat, Ali N., Ahammed, Khondakar Sayef, Al‐Ashhab, Motee, Awad, Motee Abu, Hoof, Ambro

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A novel variant of the human mitochondrial DnaJ protein, Tid1, associates with a human disease exhibiting developmental delay and polyneuropathy von Patra, Malay, Weiss, Celeste, Abu-Libdeh, Bassam, Ashhab, Motee, Abuzer, Shadi, Elpeleg, Orly, Mahajnah, Muhammad, Kessel, Amit, Azem, Abdussalam

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A loss-of-function mutation in human Oxidation Resistance 1 disrupts the spatial–temporal regulation of histone arginine methylation in neurodevelopment von Lin, Xiaolin, Wang, Wei, Yang, Mingyi, Damseh, Nadirah, de Sousa, Mirta Mittelstedt Leal, Jacob, Fadi, Lång, Anna, Kristiansen, Elise, Pannone, Marco, Kissova, Miroslava, Almaas, Runar, Kuśnierczyk, Anna, Siller, Richard, Shahrour, Maher, Al-Ashhab, Motee, Abu-Libdeh, Bassam, Tang, Wannan, Slupphaug, Geir, Elpeleg, Orly, Bøe, Stig Ove, Eide, Lars, Sullivan, Gareth J., Rinholm, Johanne Egge, Song, Hongjun, Ming, Guo-li, van Loon, Barbara, Edvardson, Simon, Ye, Jing, Bjørås, Magnar

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Pontocerebellar hypoplasia associated with p. Arg183Trp homozygous variant in EXOSC1 gene: A case report von Damseh, Nadirah S., Obeidat, Ali N., Ahammed, Khondakar Sayef, Al‐Ashhab, Motee, Awad, Motee Abu, van Hoof, Ambro

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Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination von Damseh, Nadirah, Simonin, Alexandre, Jalas, Chaim, Picoraro, Joseph A, Shaag, Avraham, Cho, Megan T, Yaacov, Barak, Neidich, Julie, Al-Ashhab, Motee, Juusola, Jane, Bale, Sherri, Telegrafi, Aida, Retterer, Kyle, Pappas, John G, Moran, Ellen, Cappell, Joshua, Anyane Yeboa, Kwame, Abu-Libdeh, Bassam, Hediger, Matthias A, Chung, Wendy K, Elpeleg, Orly, Edvardson, Simon

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Homozygous frameshift variant in NTNG2, encoding a synaptic cell adhesion molecule, in individuals with developmental delay, hypotonia, and autistic features von Abu-Libdeh, Bassam, Ashhab, Motee, Shahrour, Maher, Daana, Muhannad, Dudin, Anwar, Elpeleg, Orly, Edvardson, Simon, Harel, Tamar

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Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals von Sczakiel, Henrike L, Zhao, Max, Wollert-Wulf, Brigitte, Danyel, Magdalena, Ehmke, Nadja, Stoltenburg, Corinna, Damseh, Nadirah, Al-Ashhab, Motee, Balci, Tugce B, Osmond, Matthew, Andrade, Andrea, Schallner, Jens, Porrmann, Joseph, McDonald, Kimberly, Liao, Mingjuan, Oppermann, Henry, Platzer, Konrad, Dierksen, Nadine, Mojarrad, Majid, Eslahi, Atieh, Bakaeean, Behnaz, Calame, Daniel G, Lupski, James R, Firoozfar, Zahra, Seyedhassani, Seyed Mohammad, Mohammadi, Seyed Ahmad, Anwaar, Najwa, Rahman, Fatima, Seelow, Dominik, Janz, Martin, Horn, Denise, Maroofian, Reza, Boschann, Felix

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Hypomyelinating leukodystrophy associated with a deleterious mutation in the ATRN gene von Shahrour, Maher Awni, Ashhab, Motee, Edvardson, Simon, Gur, Michal, Abu-Libdeh, Bassam, Elpeleg, Orly

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A defect in the retromer accessory protein, SNX27, manifests by infantile myoclonic epilepsy and neurodegeneration von Damseh, Nadirah, Danson, Chris M., Al-Ashhab, Motee, Abu-Libdeh, Bassam, Gallon, Matthew, Sharma, Kanchan, Yaacov, Barak, Coulthard, Elizabeth, Caldwell, Maeve A., Edvardson, Simon, Cullen, Peter J., Elpeleg, Orly

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PARP10 deficiency manifests by severe developmental delay and DNA repair defect von Shahrour, Maher Awni, Nicolae, Claudia M., Edvardson, Simon, Ashhab, Motee, Galvan, Adri M., Constantin, Daniel, Abu-Libdeh, Bassam, Moldovan, George-Lucian, Elpeleg, Orly

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PARP10 deficiency manifests by infantile neurodegeneration and DNA repair defect von Shahrour, Maher Awni, Nicolae, Claudia M., Edvardson, Simon, Ashhab, Motee, Galvan, Adri M., Constantin, Daniel, Abu-Libdeh, Bassam, Moldovan, George-Lucian, Elpeleg, Orly

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Erratum to: PARP10 deficiency manifests by severe developmental delay and DNA repair defect von Shahrour, Maher Awni, Nicolae, Claudia M., Edvardson, Simon, Ashhab, Motee, Galvan, Adri M., Constantin, Daniel, Abu-Libdeh, Bassam, Moldovan, George-Lucian, Elpeleg, Orly

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Erratum to: PARP10 deficiency manifests by severe developmental delay and DNA repair defect von Shahrour, Maher Awni, Nicolae, Claudia M., Edvardson, Simon, Ashhab, Motee, Galvan, Adri M., Constantin, Daniel, Abu-Libdeh, Bassam, Moldovan, George-Lucian, Elpeleg, Orly

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A loss-of-function mutation in human Oxidation Resistance 1 disrupts the spatial–temporal regulation of histone arginine methylation in neurodevelopment von Lin, Xiaolin, Wang, Wei, Yang, Mingyi, Damseh, Nadirah, Sousa, Mirta, Jacob, Fadi, lång, anna ulrika, Kristiansen, Elise, Pannone, Marco, Kissova, Miroslava, Almaas, Runar, Kusnierczyk, Anna, Siller, Richard, Shahrour, Maher, Al-Ashhab, Motee, Abu-Libdeh, Bassam, Tang, Wannan, Slupphaug, Geir, Elpeleg, Orly, Bøe, Stig Ove, Eide, Lars, Sullivan, Gareth John, Rinholm, Johanne Egge, Song, Hongjun, Ming, Guo-li, van Loon, Barbara, Edvardson, Simon, Ye, Jing, Bjørås, Magnar

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A loss-of-function mutation in human Oxidation Resistance 1 disrupts the spatial–temporal regulation of histone arginine methylation in neurodevelopment von Lin, Xiaolin, Wang, Wei, Yang, Mingyi, Damseh, Nadirah, Sousa, Mirta, Jacob, Fadi, lång, anna ulrika, Kristiansen, Elise, Pannone, Marco, Kissova, Miroslava, Almaas, Runar, Kusnierczyk, Anna, Siller, Richard, Shahrour, Maher, Al-Ashhab, Motee, Abu-Libdeh, Bassam, Tang, Wannan, Slupphaug, Geir, Elpeleg, Orly, Bøe, Stig Ove, Eide, Lars, Sullivan, Gareth John, Rinholm, Johanne Egge, Song, Hongjun, Ming, Guo-li, van Loon, Barbara, Edvardson, Simon, Ye, Jing, Bjørås, Magnar

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Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals von Sczakiel, Henrike L, Zhao, Max, Wollert-Wulf, Brigitte, Danyel, Magdalena, Ehmke, Nadja, Stoltenburg, Corinna, Damseh, Nadirah, Al-Ashhab, Motee, Balci, Tugce B, Osmond, Matthew, Andrade, Andrea, Schallner, Jens, Porrmann, Joseph, McDonald, Kimberly, Liao, Mingjuan, Oppermann, Henry, Platzer, Konrad, Dierksen, Nadine, Mojarrad, Majid, Eslahi, Atieh, Bakaeean, Behnaz, Calame, Daniel G, Lupski, James R, Firoozfar, Zahra, Seyedhassani, Seyed Mohammad, Mohammadi, Seyed Ahmad, Anwaar, Najwa, Rahman, Fatima, Seelow, Dominik, Janz, Martin, Horn, Denise, Maroofian, Reza, Boschann, Felix

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A loss-of-function mutation in human Oxidation Resistance 1 disrupts the spatial–temporal regulation of histone arginine methylation in neurodevelopment von Lin, Xiaolin, Wang, Wei, Yang, Mingyi, Damseh, Nadirah, de Sousa, Mirta M. L, Jacob, Fadi, Lång, Anna, Kristiansen, Elise, Pannone, Marco, Kissova, Miroslava, Almaas, Runar, Kuśnierczyk, Anna, Siller, Richard, Shahrour, Maher, Al-Ashhab, Motee, Abu-Libdeh, Bassam, Tang, Wannan, Slupphaug, Geir, Elpeleg, Orly, Bøe, Stig O, Eide, Lars, Sullivan, Gareth J, Rinholm, Johanne E, Song, Hongjun, Ming, Guo-li, van Loon, Barbara, Edvardson, Simon, Ye, Jing, Bjørås, Magnar

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Additional file 4 of A loss-of-function mutation in human Oxidation Resistance 1 disrupts the spatial–temporal regulation of histone arginine methylation in neurodevelopment von Lin, Xiaolin, Wang, Wei, Yang, Mingyi, Damseh, Nadirah, de Sousa, Mirta Mittelstedt Leal, Jacob, Fadi, Lång, Anna, Kristiansen, Elise, Pannone, Marco, Kissova, Miroslava, Almaas, Runar, Kuśnierczyk, Anna, Siller, Richard, Shahrour, Maher, Al-Ashhab, Motee, Abu-Libdeh, Bassam, Tang, Wannan, Slupphaug, Geir, Elpeleg, Orly, Bøe, Stig Ove, Eide, Lars, Sullivan, Gareth J., Rinholm, Johanne Egge, Song, Hongjun, Ming, Guo-li, van Loon, Barbara, Edvardson, Simon, Ye, Jing, Bjørås, Magnar

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Additional file 2 of A loss-of-function mutation in human Oxidation Resistance 1 disrupts the spatial–temporal regulation of histone arginine methylation in neurodevelopment von Lin, Xiaolin, Wang, Wei, Yang, Mingyi, Damseh, Nadirah, de Sousa, Mirta Mittelstedt Leal, Jacob, Fadi, Lång, Anna, Kristiansen, Elise, Pannone, Marco, Kissova, Miroslava, Almaas, Runar, Kuśnierczyk, Anna, Siller, Richard, Shahrour, Maher, Al-Ashhab, Motee, Abu-Libdeh, Bassam, Tang, Wannan, Slupphaug, Geir, Elpeleg, Orly, Bøe, Stig Ove, Eide, Lars, Sullivan, Gareth J., Rinholm, Johanne Egge, Song, Hongjun, Ming, Guo-li, van Loon, Barbara, Edvardson, Simon, Ye, Jing, Bjørås, Magnar

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