Biallelic loss‐of‐function HACD1 variants are a bona fide cause of congenital myopathy
Abbasi‐Moheb, Lia, Westenberger, Ana, Alotaibi, Maha, Alghamdi, Malak Ali, Hertecant, Jozef L., Ariamand, Amir, Beetz, Christian, Rolfs, Arndt, Bertoli‐Avella, Aida M., Bauer, Peter
Published in Clinical genetics (01.04.2021)
Published in Clinical genetics (01.04.2021)
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Journal Article
Biallelic inactivating variants in the GTPBP2 gene cause a neurodevelopmental disorder with severe intellectual disability
Bertoli-Avella, Aida M, Garcia-Aznar, Jose M, Brandau, Oliver, Al-Hakami, Fahad, Yüksel, Zafer, Marais, Anett, Grüning, Nana-Maria, Abbasi Moheb, Lia, Paknia, Omid, Alshaikh, Nahla, Alameer, Seham, Marafi, Makia J, Al-Mulla, Fahd, Al-Sannaa, Nouriya, Rolfs, Arndt, Bauer, Peter
Published in European journal of human genetics : EJHG (01.04.2018)
Published in European journal of human genetics : EJHG (01.04.2018)
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Journal Article
Deep sequencing reveals 50 novel genes for recessive cognitive disorders
NAJMABADI, Hossein, HAO HU, ZECHA, Agnes, MOHSENI, Marzieh, PUTTMANN, Lucia, LEYLA NOURI VAHID, JENSEN, Corinna, LIA ABBASI MOHEB, BIENEK, Melanie, LARTI, Farzaneh, MUELLER, Ines, WEISSMANN, Robert, GARSHASBI, Masoud, DARVISH, Hossein, WROGEMANN, Klaus, HADAVI, Valeh, LIPKOWITZ, Bettina, ESMAEELI-NIEH, Sahar, WIECZOREK, Dagmar, KARIMINEJAD, Roxana, SAGHAR GHASEMI FIROUZABADI, COHEN, Monika, FATTAHI, Zohreh, ZEMOJTEL, Tomasz, ROST, Imma, MOJAHEDI, Faezeh, HERTZBERG, Christoph, DEHGHAN, Atefeh, RAJAB, Anna, MOHAMMAD JAVAD SOLTANI BANAVANDI, HOFFER, Julia, FALAH, Masoumeh, MUSANTE, Luciana, KALSCHEUER, Vera, SEYEDEH SEDIGHEH ABEDINI, ULLMANN, Reinhard, WALTER KUSS, Andreas, TZSCHACH, Andreas, KAHRIZI, Kimia, ROPERS, H. Hilger, WEI CHEN, HOSSEINI, Masoumeh, BEHJATI, Farkhondeh, HAAS, Stefan, JAMALI, Payman
Published in Nature (London) (06.10.2011)
Published in Nature (London) (06.10.2011)
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Journal Article
Biallelic TERT variant leads to Hoyeraal–Hreidarsson syndrome with additional dyskeratosis congenita findings
Çepni, Ece, Satkın, Nihan Bilge, Moheb, Lia Abbasi, Rocha, Maria Eugenia, Kayserili, Hülya
Published in American journal of medical genetics. Part A (01.04.2022)
Published in American journal of medical genetics. Part A (01.04.2022)
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Journal Article
A novel mutation in ACADVL causing very long-chain acyl-coenzyme-A dehydrogenase deficiency in a South Asian pediatric patient: a case report and review of the literature
Arunath, Visvalingam, Liyanarachchi, Manoj Sanjeewa, Gajealan, Sundararajah, Jasinge, Eresha, Weerasekara, Kumudu, Moheb, Lia Abbasi
Published in Journal of medical case reports (01.09.2021)
Published in Journal of medical case reports (01.09.2021)
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Journal Article
Fragile X syndrome screening of families with consanguineous and non-consanguineous parents in the Iranian population
Pouya, Ali Reza, Abedini, Seyedeh Sedigheh, Mansoorian, Neda, Behjati, Farkhondeh, Nikzat, Nooshin, Mohseni, Marzieh, Nieh, Sahar Esmaeeli, Abbasi Moheb, Lia, Darvish, Hossein, Monajemi, Gholamreza Bahrami, Banihashemi, Susan, Kahrizi, Kimia, Ropers, Hans Hilger, Najmabadi, Hossein
Published in European journal of medical genetics (01.07.2009)
Published in European journal of medical genetics (01.07.2009)
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Journal Article
A novel POC1A variant in an alternatively spliced exon causes classic SOFT syndrome: clinical presentation of seven patients
Al-Kindi, Adila, Al-Shehhi, Maryam, Westenberger, Ana, Beetz, Christian, Scott, Patrick, Brandau, Oliver, Abbasi-Moheb, Lia, Yüksel, Zafer, Bauer, Peter, Rolfs, Arndt, Grüning, Nana-Maria
Published in Journal of human genetics (01.01.2020)
Published in Journal of human genetics (01.01.2020)
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Journal Article
Identification of a nonsense mutation in the very low-density lipoprotein receptor gene ( ) in an Iranian family with dysequilibrium syndrome
LIA ABBASI MOHEB, TZSCHACH, Andreas, GARSHASBI, Masoud, KAHRIZI, Kimia, DARVISH, Hossein, HESHMATI, Yaser, KORDI, Alireza, NAJMABADI, Hossein, ROPERS, Hans Hilger, KUSS, Andreas Walter
Published in European journal of human genetics : EJHG (01.02.2008)
Published in European journal of human genetics : EJHG (01.02.2008)
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Journal Article
Mutations in NSUN2 Cause Autosomal- Recessive Intellectual Disability
Abbasi-Moheb, Lia, Mertel, Sara, Gonsior, Melanie, Nouri-Vahid, Leyla, Kahrizi, Kimia, Cirak, Sebahattin, Wieczorek, Dagmar, Motazacker, M. Mahdi, Esmaeeli-Nieh, Sahar, Cremer, Kirsten, Weißmann, Robert, Tzschach, Andreas, Garshasbi, Masoud, Abedini, Seyedeh S., Najmabadi, Hossein, Ropers, H. Hilger, Sigrist, Stephan J., Kuss, Andreas W.
Published in American journal of human genetics (04.05.2012)
Published in American journal of human genetics (04.05.2012)
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Journal Article
Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots
Kuss, Andreas Walter, Garshasbi, Masoud, Kahrizi, Kimia, Tzschach, Andreas, Behjati, Farkhondeh, Darvish, Hossein, Abbasi-Moheb, Lia, Puettmann, Lucia, Zecha, Agnes, Weißmann, Robert, Hu, Hao, Mohseni, Marzieh, Abedini, Seyedeh Sedigheh, Rajab, Anna, Hertzberg, Christoph, Wieczorek, Dagmar, Ullmann, Reinhard, Ghasemi-Firouzabadi, Saghar, Banihashemi, Susan, Arzhangi, Sanaz, Hadavi, Valeh, Bahrami-Monajemi, Gholamreza, Kasiri, Mahboubeh, Falah, Masoumeh, Nikuei, Pooneh, Dehghan, Atefeh, Sobhani, Masoumeh, Jamali, Payman, Ropers, Hans Hilger, Najmabadi, Hossein
Published in Human genetics (01.02.2011)
Published in Human genetics (01.02.2011)
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Journal Article
High prevalence of the -alpha3.7 deletion among thalassemia patients in Iran
Neishabury, Maryam, Oberkanins, Christian, Moheb, Lia Abbasi, Pourfatholuah, Ali Akbar, Kahrizi, Kimia, Keyhany, Elahe, Krugluger, Walter, Najmabadi, Hossein
Published in Hemoglobin (01.02.2003)
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Published in Hemoglobin (01.02.2003)
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