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Nature genetics, 2024-07, Vol.56 (7), p.1323-1323
2024
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Frontiers in medicine, 2023-12, Vol.10, p.1281049
2023
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SAGE open medical case reports, 2023-01, Vol.11, p.2050313X231160883
2023
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SAGE open medical case reports, 2024-01, Vol.12, p.2050313X241245317
2024
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SAGE open medical case reports, 2022-01, Vol.10, p.2050313X221144219
2022
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SAGE open medical case reports, 2023-01, Vol.11, p.2050313X231186496
2023
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Neurogenetics, 2022-04, Vol.23 (2), p.115-127
2022
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Respiratory medicine case reports, 2022, Vol.40, p.101750, Article 101750
2022
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Radiology case reports, 2021-11, Vol.16 (11), p.3581-3588
2021
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Clinical lymphoma, myeloma and leukemia, 2023-09, Vol.23, p.S377-S377
2023
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Clinical lymphoma, myeloma and leukemia, 2023-09, Vol.23, p.S188-S188
2023
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Clinical lymphoma, myeloma and leukemia, 2023-09, Vol.23, p.S357-S357
2023
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Clinical lymphoma, myeloma and leukemia, 2023-09, Vol.23, p.S187-S187
2023
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SAGE open medical case reports, 2023-07, Vol.11
2023
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Science (American Association for the Advancement of Science), 2024-05, Vol.384 (6695), p.584-590
- Vong, Keng Ioi
- Lee, Sangmoon
- Au, Kit Sing
- Crowley, T Blaine
- Capra, Valeria
- Martino, Jeremiah
- Haller, Meade
- Araújo, Camila
- Machado, Hélio R
- George, Renee
- Gerding, Bryn
- James, Kiely N
- Stanley, Valentina
- Jiang, Nan
- Alu, Kameron
- Meave, Naomi
- Nidhiry, Anna S
- Jiwani, Fiza
- Tang, Isaac
- Nisal, Ashna
- Jhamb, Ishani
- Patel, Arzoo
- Patel, Aakash
- McEvoy-Venneri, Jennifer
- Barrows, Chelsea
- Shen, Celina
- Ha, Yoo-Jin
- Howarth, Robyn
- Strain, Madison
- Ashley-Koch, Allison Elizabeth
- Azam, Matloob
- Mumtaz, Sara
- Bot, Gyang Markus
- Finnell, Richard H
- Kibar, Zoha
- Marwan, Ahmed I
- Melikishvili, Gia
- Meltzer, Hal S
- Mutchinick, Osvaldo M
- Stevenson, David A
- Mroczkowski, Henry J
- Ostrander, Betsy
- Schindewolf, Erica
- Moldenhauer, Julie
- Zackai, Elaine H
- Emanuel, Beverly S
- Garcia-Minaur, Sixto
- Nowakowska, Beata A
- Stevenson, Roger E
- Zaki, Maha S
- Northrup, Hope
- McNamara, Hanna K
- Aldinger, Kimberly A
- Phelps, Ian G
- Deng, Mei
- Glass, Ian A
- Morrow, Bernice
- McDonald-McGinn, Donna M
- Sanna-Cherchi, Simone
- Lamb, Dolores J
- Gleeson, Joseph G
2024
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European journal of human genetics : EJHG, 2022-09, Vol.30 (9), p.1029-1035
- Almeida, Ligia S
- Pereira, Catarina
- Aanicai, Ruxandra
- Schröder, Sabine
- Bochinski, Tomasz
- Kaune, Anett
- Urzi, Alice
- Spohr, Tania C L S
- Viceconte, Nikenza
- Oppermann, Sebastian
- Alasel, Mohammed
- Ebadat, Saeedeh
- Iftikhar, Sana
- Jasinge, Eresha
- Elsayed, Solaf M
- Tomoum, Hoda
- Marzouk, Iman
- Jalan, Anil B
- Cerkauskaite, Agne
- Cerkauskiene, Rimante
- Tkemaladze, Tinatin
- Nadeem, Anjum Muhammad
- El Din Mahmoud, Iman Gamal
- Mossad, Fawzia Amer
- Kamel, Mona
- Selim, Laila Abdel
- Cheema, Huma Arshad
- Paknia, Omid
- Cozma, Claudia
- Juaristi-Manrique, Carlos
- Guatibonza-Moreno, Pilar
- Böttcher, Tobias
- Vogel, Florian
- Pinto-Basto, Jorge
- Bertoli-Avella, Aida
- Bauer, Peter
2022
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Human molecular genetics, 2022-12, Vol.31 (24), p.4131-4142
- Loberti, Lorenzo
- Bruno, Lucia Pia
- Granata, Stefania
- Doddato, Gabriella
- Resciniti, Sara
- Fava, Francesca
- Carullo, Michele
- Rahikkala, Elisa
- Jouret, Guillaume
- Menke, Leonie A
- Lederer, Damien
- Vrielynck, Pascal
- Ryba, Lukáš
- Brunetti-Pierri, Nicola
- Lasa-Aranzasti, Amaia
- Cueto-González, Anna Maria
- Trujillano, Laura
- Valenzuela, Irene
- Tizzano, Eduardo F
- Spinelli, Alessandro Mauro
- Bruno, Irene
- Currò, Aurora
- Stanzial, Franco
- Benedicenti, Francesco
- Lopergolo, Diego
- Santorelli, Filippo Maria
- Aristidou, Constantia
- Tanteles, George A
- Maystadt, Isabelle
- Tkemaladze, Tinatin
- Reimand, Tiia
- Lokke, Helen
- Õunap, Katrin
- Haanpää, Maria K
- Holubová, Andrea
- Zoubková, Veronika
- Schwarz, Martin
- Žordania, Riina
- Muru, Kai
- Roht, Laura
- Tihveräinen, Annika
- Teek, Rita
- Thomson, Ulvi
- Atallah, Isis
- Superti-Furga, Andrea
- Buoni, Sabrina
- Canitano, Roberto
- Scandurra, Valeria
- Rossetti, Annalisa
- Grosso, Salvatore
- Battini, Roberta
- Baldassarri, Margherita
- Mencarelli, Maria Antonietta
- Rizzo, Caterina Lo
- Bruttini, Mirella
- Mari, Francesca
- Ariani, Francesca
- Renieri, Alessandra
- Pinto, Anna Maria
2022
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Nature communications, 2023-08, Vol.14 (1), p.5269-5269, Article 5269
- AlAbdi, Lama
- Maddirevula, Sateesh
- Shamseldin, Hanan E.
- Khouj, Ebtissal
- Helaby, Rana
- Hamid, Halima
- Almulhim, Aisha
- Hashem, Mais O.
- Abdulwahab, Firdous
- Abouyousef, Omar
- Alqahtani, Mashael
- Altuwaijri, Norah
- Jaafar, Amal
- Alshidi, Tarfa
- Alzahrani, Fatema
- Al-Sagheir, Afaf I.
- Mansour, Ahmad M.
- Alawaji, Ali
- Aldhilan, Amal
- Alhashem, Amal
- Alhemidan, Amal
- Nabil, Amira
- Khan, Arif O.
- Aljohar, Aziza
- Alsaleem, Badr
- Tabarki, Brahim
- Lourenco, Charles Marques
- Faqeih, Eissa
- AlShail, Essam
- Almesaifri, Fatima
- Mutairi, Fuad Al
- Alzaidan, Hamad
- Morsy, Heba
- Alshihry, Hind
- Alkuraya, Hisham
- Girisha, Katta Mohan
- Al-Fayez, Khawla
- Al-Rubeaan, Khalid
- kraoua, Lilia
- Alnemer, Maha
- Tulbah, Maha
- Zaki, Maha S.
- Alfadhel, Majid
- Abouelhoda, Mohammed
- Nezarati, Marjan M.
- Al-Qattan, Mohammad
- Shboul, Mohammad
- Abanemai, Mohammed
- Al-Muhaizea, Mohammad A.
- Al-owain, Mohammed
- Bafaqeeh, Mohammed Sameer
- Alshammari, Muneera
- Abukhalid, Musaad
- Alsahan, Nada
- Derar, Nada
- Meriki, Neama
- Bohlega, Saeed A.
- Tala, Saeed Al
- Alhassan, Saad
- Wali, Sami
- Mohamed, Sarar
- Coskun, Serdar
- Saadeh, Sermin
- Tkemaladze, Tinatin
- Kurdi, Wesam
- Alhumaidi, Zainab Ahmed
- Rahbeeni, Zuhair
- Alkuraya, Fowzan S.
2023
Link zum Volltext
Genetics in medicine, 2024-08, Vol.26 (8), p.101170, Article 101170
- Bayat, Allan
- Grimes, Hannah
- de Boer, Elke
- Herlin, Morten Krogh
- Dahl, Rebekka Staal
- Lund, Ida Charlotte Bay
- Bayat, Michael
- Bolund, Anneli Clea Skjelmose
- Gjerulfsen, Cathrine Elisabeth
- Gregersen, Pernille Axél
- Zilmer, Monica
- Juhl, Stefan
- Cebula, Katarzyna
- Rahikkala, Elisa
- Maystadt, Isabelle
- Peron, Angela
- Vignoli, Aglaia
- Alfano, Rosa Maria
- Stanzial, Franco
- Benedicenti, Francesco
- Currò, Aurora
- Luk, Ho-Ming
- Jouret, Guillaume
- Zurita, Ella
- Heuft, Lara
- Schnabel, Franziska
- Busche, Andreas
- Veenstra-Knol, Hermine Elisabeth
- Tkemaladze, Tinatin
- Vrielynck, Pascal
- Lederer, Damien
- Platzer, Konrad
- Ockeloen, Charlotte Wilhelmina
- Goel, Himanshu
- Low, Karen Jaqueline
2024
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Molecular genetics and metabolism, 2021-04, Vol.132, p.iv-iv
2021
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Molecular genetics and metabolism, 2021-04, Vol.132, p.iv
2021
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SAGE open medical case reports, 2023-05, Vol.11
2023
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SAGE open medical case reports, 2023-01, Vol.11, p.2050313X231177163
2023
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SAGE open medical case reports, 2024, Vol.12, p.2050313X241245317-2050313X241245317
2024
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