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Items: 1 to 20 of 122

1.
Catarina Cordeiro, Paula Garcia, Dalila Coelho, Mónica Oliva
BMJ Case Rep. 2021; 14(6): e242227. Published online 2021 Jun 4. doi: 10.1136/bcr-2021-242227
PMCID:
PMC8183283
2.
Can Ficicioglu, Didem Demirbas, Britt Derks, G. Shashidhar Pai, David J. Timson, Maria Estela Rubio‐Gozalbo, Gerard T. Berry
JIMD Rep. 2021 May; 59(1): 104–109. Published online 2021 Feb 3. doi: 10.1002/jmd2.12205
PMCID:
PMC8100398
3.
M. Estela Rubio-Gozalbo, Britt Derks, Anibh Martin Das, Uta Meyer, Dorothea Möslinger, M. Luz Couce, Aurélie Empain, Can Ficicioglu, Natalia Juliá Palacios, Mariela M. De Los Santos De Pelegrin, Isabel A. Rivera, Sabine Scholl-Bürgi, Annet M. Bosch, David Cassiman, Didem Demirbas, Matthias Gautschi, Ina Knerr, Philippe Labrune, Anastasia Skouma, Patrick Verloo, Saskia B. Wortmann, Eileen P. Treacy, David J. Timson, Gerard T. Berry
Genet Med. 2021; 23(1): 202–210. Published online 2020 Aug 18. doi: 10.1038/s41436-020-00942-9
PMCID:
PMC7790741
4.
Mashbat Bayarchimeg, Dunia Ismail, Amanda Lam, Derek Burk, Jeremy Kirk, Wolfgang Hogler, Sarah E Flanagan, Sian Ellard, Khalid Hussain
JIMD Rep. 2012; 5: 7–11. Published online 2011 Dec 13. doi: 10.1007/8904_2011_110
PMCID:
PMC3509914
5.
R C Schoen, S H Cox, R P Wagner
Am J Hum Genet. 1984 Jul; 36(4): 815–822.
PMCID:
PMC1684481
6.
J. G. H. Cook, N. A. Don, Trevor P. Mann
Arch Dis Child. 1971 Aug; 46(248): 465–469. doi: 10.1136/adc.46.248.465
PMCID:
PMC1647736
7.
Luba Kalaydjieva, Anna Perez-Lezaun, Dora Angelicheva, Suna Onengut, Danielle Dye, Nils U. Bosshard, Albena Jordanova, Alexei Savov, Peter Yanakiev, Ivo Kremensky, Brigitta Radeva, Joachim Hallmayer, Arseni Markov, Vanya Nedkova, Ivailo Tournev, Lidia Aneva, Richard Gitzelmann
Am J Hum Genet. 1999 Nov; 65(5): 1299–1307. Published online 1999 Oct 11. doi: 10.1086/302611
PMCID:
PMC1288282
8.
Yoshiyuki Okano, Minoru Asada, Akie Fujimoto, Akira Ohtake, Koichiro Murayama, Kwang-Jen Hsiao, Kyuchul Choeh, Yanling Yang, Qixiang Cao, Juergen K. V. Reichardt, Shizuhiro Niihira, Takuji Imamura, Tsunekazu Yamano
Am J Hum Genet. 2001 Apr; 68(4): 1036–1042. Published online 2001 Feb 23. doi: 10.1086/319512
PMCID:
PMC1275622
9.
R T Lee, C L Peterson, A F Calman, I Herskowitz, J J O'Donnell
Proc Natl Acad Sci U S A. 1992 Nov 15; 89(22): 10887–10891. doi: 10.1073/pnas.89.22.10887
PMCID:
PMC50447
10.
Giovanna Forte, Antonia Lucia Buonadonna, Antonino Pantaleo, Candida Fasano, Donatella Capodiferro, Valentina Grossi, Paola Sanese, Filomena Cariola, Katia De Marco, Martina Lepore Signorile, Andrea Manghisi, Anna Filomena Guglielmi, Simonetta Simonetti, Nicola Laforgia, Vittoria Disciglio, Cristiano Simone
Int J Mol Sci. 2023 Dec; 24(24): 17388. Published online 2023 Dec 12. doi: 10.3390/ijms242417388
PMCID:
PMC10744227
11.
Ioana Rosca, Alina Turenschi, Alin Nicolescu, Andreea Teodora Constantin, Adina Maria Canciu, Alice Denisa Dica, Elvira Bratila, Ciprian Andrei Coroleuca, Leonard Nastase
Medicina (Kaunas) 2023 May; 59(5): 856. Published online 2023 Apr 28. doi: 10.3390/medicina59050856
PMCID:
PMC10220887
12.
Nichole M. Stettner, David J. Cutler, Judith L. Fridovich-Keil
Mol Genet Metab.
Published in final edited form as: Mol Genet Metab. 2023 Apr; 138(4): 107542. Published online 2023 Feb 21. doi: 10.1016/j.ymgme.2023.107542
PMCID:
PMC10133179
13.
Britt Derks, Greysha Rivera-Cruz, Synneva Hagen-Lillevik, E Naomi Vos, Didem Demirbas, Kent Lai, Eileen P Treacy, Harvey L Levy, Louise E Wilkins-Haug, M Estela Rubio-Gozalbo, Gerard T Berry
Hum Reprod Update. 2023 Mar-Apr; 29(2): 246–258. Published online 2022 Dec 13. doi: 10.1093/humupd/dmac041
PMCID:
PMC9976963
14.
Ioana Badiu Tișa, Anca Cristina Achim, Anamaria Cozma-Petruț
Nutrients. 2023 Jan; 15(1): 10. Published online 2022 Dec 20. doi: 10.3390/nu15010010
PMCID:
PMC9823668
15.
Synneva Hagen-Lillevik, Joshua Johnson, Kent Lai
J Ovarian Res. 2022; 15: 122. Published online 2022 Nov 21. doi: 10.1186/s13048-022-01049-2
PMCID:
PMC9682695
16.
Quinton Katler, Karolina M. Stepien, Nathan Paull, Sneh Patel, Michael Adams, Mehmet Cihan Balci, Gerard T. Berry, Annet M. Bosch, Angela De La O, Didem Demirbas, Julianna Edman, Can Ficicioglu, Melanie Goff, Stephanie Hacker, Ina Knerr, Kristen Lancaster, Hong Li, Bryce A. Mendelsohn, Brandi Nichols, Wladimir Bocca Vieira de Rezende Pinto, Júlio César Rocha, M Estela Rubio-Gozalbo, Michael Saad-Naguib, Sabine Scholl-Buergi, Sarah Searcy, Paulo Victor Sgobbi de Souza, Angela Wittenauer, Judith L. Fridovich-Keil
J Inherit Metab Dis.
Published in final edited form as: J Inherit Metab Dis. 2022 Nov; 45(6): 1106–1117. Published online 2022 Sep 26. doi: 10.1002/jimd.12556
PMCID:
PMC9643640
17.
Britt Delnoy, Minela Haskovic, Jo Vanoevelen, Laura K. M. Steinbusch, Esther Naomi Vos, Kèvin Knoops, Luc J. I. Zimmermann, Marek Noga, Dirk J. Lefeber, Paolo G. V. Martini, Ana I. Coelho, Maria Estela Rubio‐Gozalbo
J Inherit Metab Dis. 2022 Jul; 45(4): 748–758. Published online 2022 May 27. doi: 10.1002/jimd.12512
PMCID:
PMC9541528
18.
Britt Derks, Didem Demirbas, Rodrigo R. Arantes, Samantha Banford, Alberto B. Burlina, Analía Cabrera, Ana Chiesa, M. Luz Couce, Carlo Dionisi-Vici, Matthias Gautschi, Stephanie Grünewald, Eva Morava, Dorothea Möslinger, Sabine Scholl-Bürgi, Anastasia Skouma, Karolina M. Stepien, David J. Timson, Gerard T. Berry, M. Estela Rubio-Gozalbo
Orphanet J Rare Dis. 2022; 17: 331. Published online 2022 Sep 2. doi: 10.1186/s13023-022-02494-4
PMCID:
PMC9438182
19.
Synneva Hagen-Lillevik, Joshua Johnson, Anwer Siddiqi, Jes Persinger, Gillian Hale, Kent Lai
Int J Mol Sci. 2022 Aug; 23(15): 8654. Published online 2022 Aug 4. doi: 10.3390/ijms23158654
PMCID:
PMC9369367
20.
Felipe S.A. Pimentel, Caio M. Machado, Evandro A. De-Souza, Caroline Mota Fernandes, Ana Luiza F.V. De-Queiroz, Guilherme F.S. Silva, Maurizio Del Poeta, Monica Montero-Lomeli, Claudio A. Masuda
Biochim Biophys Acta Mol Basis Dis.
Published in final edited form as: Biochim Biophys Acta Mol Basis Dis. 2022 Jun 1; 1868(6): 166389. Published online 2022 Mar 14. doi: 10.1016/j.bbadis.2022.166389
PMCID:
PMC9326788

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