Works matching DE "LAURENCE-Moon-Biedl syndrome"
1
- Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03835-9
- Finkelberg, Ilja;
- Polichronidou, Ioanna M.;
- Hühne, Tom;
- Brensing, Pia;
- Karaterzi, Sinem;
- Jaegers, Johannes;
- Gäckler, Anja;
- Pape, Lars;
- Cetiner, Metin
- Article
2
- 2025
- Sorthiya, Bansari;
- Maitra, Puja
- Letter
3
- Nature Structural & Molecular Biology, 2014, v. 21, n. 12, p. 1035, doi. 10.1038/nsmb.2920
- Mourão, André;
- Nager, Andrew R;
- Nachury, Maxence V;
- Lorentzen, Esben
- Article
4
- Human Mutation, 2003, v. 22, n. 2, p. 151, doi. 10.1002/humu.10241
- Bethan E. Hoskins;
- Anita Thorn;
- Peter J. Scambler;
- Philip L. Beales
- Article
5
- Human Mutation, 2003, v. 22, n. 2, p. 151, doi. 10.1002/humu.10241
- Bethan E. Hoskins;
- Anita Thorn;
- Peter J. Scambler;
- Philip L. Beales
- Article
6
- Medical Principles & Practice, 2004, v. 13, n. 6, p. 380, doi. 10.1159/000080479
- S. Ulusoy;
- K. Kaynar;
- S. Gul;
- K. Ukinc
- Article
7
- Jentashapir Journal of Cellular & Molecular Biology, 2024, v. 15, n. 2, p. 1, doi. 10.5812/jcp-140747
- Khouzani, Mohammad Shiravi;
- Kandasamy, Krishnaveni
- Article
8
- Clinical Kidney Journal, 2021, v. 14, n. 6, p. 1545, doi. 10.1093/ckj/sfaa182
- Zacchia, Miriam;
- Blanco, Francesca Del Vecchio;
- Torella, Annalaura;
- Raucci, Raffaele;
- Blasio, Giancarlo;
- Onore, Maria Elena;
- Marchese, Emanuela;
- Trepiccione, Francesco;
- Vitagliano, Caterina;
- Iorio, Valentina Di;
- Alessandra, Perna;
- Simonelli, Francesca;
- Nigro, Vincenzo;
- Capasso, Giovambattista;
- Viggiano, Davide
- Article
9
- 2013
- Farahmand Porkar, Nastaran;
- Monfared, Ali;
- Fallah Karkan, Morteza
- Case Study
10
- Ophthalmic Genetics, 1998, v. 19, n. 2, p. 107, doi. 10.1076/opge.19.2.107.2315
- Lian-Jun, Wei;
- Xueying, Pang;
- Cunyou, Duan;
- Xuangying, Pang
- Article
11
- Genes, 2024, v. 15, n. 6, p. 762, doi. 10.3390/genes15060762
- Milibari, Doaa;
- Nowilaty, Sawsan R.;
- Ba-Abbad, Rola
- Article
12
- Genes, 2024, v. 15, n. 4, p. 516, doi. 10.3390/genes15040516
- Holanda, Ianne Pessoa;
- Rim, Priscila Hae Hyun;
- Guaragna, Mara Sanches;
- Gil-da-Silva-Lopes, Vera Lúcia;
- Steiner, Carlos Eduardo
- Article
13
- Genes, 2023, v. 14, n. 9, p. 1784, doi. 10.3390/genes14091784
- Waszczykowska, Arleta;
- Jeziorny, Krzysztof;
- Barańska, Dobromiła;
- Matera, Katarzyna;
- Pyziak-Skupien, Aleksandra;
- Ciborowski, Michał;
- Zmysłowska, Agnieszka
- Article
14
- Genes, 2023, v. 14, n. 5, p. 1113, doi. 10.3390/genes14051113
- Nawaz, Hamed;
- Mujahid;
- Khan, Sher Alam;
- Bibi, Farhana;
- Waqas, Ahmed;
- Bari, Abdul;
- Fardous;
- Khan, Niamatullah;
- Muhammad, Nazif;
- Khan, Amjad;
- Paracha, Sohail Aziz;
- Alam, Qamre;
- Kamal, Mohammad Azhar;
- Rafeeq, Misbahuddin M.;
- Muhammad, Noor;
- Haq, Fayaz Ul;
- Khan, Shazia;
- Mahmood, Arif;
- Khan, Saadullah;
- Umair, Muhammad
- Article
15
- Genes, 2023, v. 14, n. 2, p. 404, doi. 10.3390/genes14020404
- Rao, Ali Raza;
- Nazir, Aamir;
- Imtiaz, Samina;
- Paracha, Sohail Aziz;
- Waryah, Yar Muhammad;
- Ujjan, Ikram Din;
- Anwar, Ijaz;
- Iqbal, Afia;
- Santoni, Federico A.;
- Shah, Inayat;
- Gul, Khitab;
- Baig, Hafiz Muhammad Azhar;
- Waryah, Ali Muhammad;
- Antonarakis, Stylianos E.;
- Ansar, Muhammad
- Article
16
- Genes, 2023, v. 14, n. 1, p. 84, doi. 10.3390/genes14010084
- Kantaputra, Piranit;
- Dejkhamron, Prapai;
- Sittiwangkul, Rekwan;
- Katanyuwong, Kamornwan;
- Ngamphiw, Chumpol;
- Sonsuwan, Nuntigar;
- Intachai, Worrachet;
- Tongsima, Sissades;
- Beales, Philip L.;
- Buranaphatthana, Worakanya
- Article
17
- Genes, 2022, v. 13, n. 12, p. 2370, doi. 10.3390/genes13122370
- Smyczynska, Urszula;
- Stanczak, Marcin;
- Kuljanin, Miljan;
- Włodarczyk, Aneta;
- Stoczynska-Fidelus, Ewelina;
- Taha, Joanna;
- Pawlik, Bartłomiej;
- Borowiec, Maciej;
- Mancias, Joseph D.;
- Mlynarski, Wojciech;
- Rieske, Piotr;
- Fendler, Wojciech;
- Zmysłowska, Agnieszka
- Article
18
- Genes, 2021, v. 12, n. 11, p. 1771, doi. 10.3390/genes12111771
- Hitti-Malin, Rebekkah J.;
- Burmeister, Louise M.;
- Lingaas, Frode;
- Kaukonen, Maria;
- Pettinen, Inka;
- Lohi, Hannes;
- Sargan, David;
- Mellersh, Cathryn S.
- Article
19
- Genes, 2021, v. 12, n. 9, p. 1353, doi. 10.3390/genes12091353
- Florea, Laura;
- Caba, Lavinia;
- Gorduza, Eusebiu Vlad
- Article
20
- Genes, 2020, v. 11, n. 11, p. 1283, doi. 10.3390/genes11111283
- Jeziorny, Krzysztof;
- Antosik, Karolina;
- Jakiel, Paulina;
- Młynarski, Wojciech;
- Borowiec, Maciej;
- Zmysłowska, Agnieszka
- Article
21
- Genes, 2020, v. 11, n. 9, p. 1090, doi. 10.3390/genes11091090
- Mäkeläinen, Suvi;
- Hellsand, Minas;
- van der Heiden, Anna Darlene;
- Andersson, Elina;
- Thorsson, Elina;
- S. Holst, Bodil;
- Häggström, Jens;
- Ljungvall, Ingrid;
- Mellersh, Cathryn;
- Hallböök, Finn;
- Andersson, Göran;
- Ekesten, Björn;
- Bergström, Tomas F.
- Article
22
- Genes, 2019, v. 10, n. 12, p. 1047, doi. 10.3390/genes10121047
- Jaffal, Lama;
- Joumaa, Wissam H;
- Assi, Alexandre;
- Helou, Charles;
- Cherfan, George;
- Zibara, Kazem;
- Audo, Isabelle;
- Zeitz, Christina;
- El Shamieh, Said
- Article
23
- Acta Odontologica Scandinavica, 2013, v. 71, n. 6, p. 1671, doi. 10.3109/00016357.2013.794389
- Andersson, Els-Marie;
- Axelsson, Stefan;
- Gjølstad, Lars-Fredrik;
- Storhaug, Kari
- Article
24
- Clinical Medicine Insights: Pediatrics, 2015, n. 9, p. 7, doi. 10.4137/CMPed.S20787
- Sharma, Deepak;
- Murki, Srinivas;
- Pratap, Oleti Tejo;
- Irfan, G. M.;
- Kolar, Geeta
- Article
25
- Nutrients, 2023, v. 15, n. 15, p. 3445, doi. 10.3390/nu15153445
- Horwitz, Avital;
- Birk, Ruth
- Article
26
- European Journal of Human Genetics, 2007, v. 15, n. 2, p. 173, doi. 10.1038/sj.ejhg.5201736
- White, Dominic R. A.;
- Ganesh, Anuradha;
- Nishimura, Darryl;
- Rattenberry, Eleanor;
- Ahmed, Shakeel;
- Smith, Ursula M.;
- Pasha, Shanaz;
- Raeburn, Sandy;
- Trembath, Richard C.;
- Rajab, Anna;
- Macdonald, Fiona;
- Banin, Eyal;
- Stone, Edwin M.;
- Johnson, Colin A.;
- Sheffield, Val C.;
- Maher, Eamonn R.
- Article
27
- European Journal of Human Genetics, 2006, v. 14, n. 11, p. 1195, doi. 10.1038/sj.ejhg.5201688
- Laurier, Virginie;
- Stoetzel, Corinne;
- Muller, Jean;
- Thibault, Christelle;
- Corbani, Sandra;
- Jalkh, Nadine;
- Salem, Nabiha;
- Chouery, Eliane;
- Poch, Olivier;
- Licaire, Serge;
- Danse, Jean-Marc;
- Amati-Bonneau, Patricia;
- Bonneau, Dominique;
- Mégarbané, André;
- Mandel, Jean-Louis;
- Dollfus, Hélène
- Article
28
- European Journal of Human Genetics, 2005, v. 13, n. 5, p. 607, doi. 10.1038/sj.ejhg.5201372
- Hichri, Haifa;
- Stoetzel, Corinne;
- Laurier, Virginie;
- Caron, Solenne;
- Sigaudy, Sabine;
- Sarda, Pierre;
- Hamel, Christian;
- Martin-Coignard, Dominique;
- Gilles, Morin;
- Leheup, Bruno;
- Holder, Mureille;
- Kaplan, Josseline;
- Bitoun, Pierre;
- Lacombe, Didier;
- Verloes, Alain;
- Bonneau, Dominique;
- Perrin-Schmitt, Fabienne;
- Brandt, Christian;
- Besancon, Anne-Françoise;
- Mandel, Jean-Louis
- Article
29
- European Neurology, 2002, v. 48, n. 4, p. 230, doi. 10.1159/000066170
- Roselli, Francesco;
- De Tommaso, Marina;
- Stella Aniello, Maria;
- Livrea, Paolo;
- Defazio, Giovanni
- Article
30
- PLoS ONE, 2019, v. 14, n. 4, p. 1, doi. 10.1371/journal.pone.0213960
- Lessieur, Emma M.;
- Song, Ping;
- Nivar, Gabrielle C.;
- Piccillo, Ellen M.;
- Fogerty, Joseph;
- Rozic, Richard;
- Perkins, Brian D.
- Article
31
- PLoS ONE, 2018, v. 13, n. 3, p. 1, doi. 10.1371/journal.pone.0195005
- Nozaki, Shohei;
- Katoh, Yohei;
- Kobayashi, Takuya;
- Nakayama, Kazuhisa
- Article
32
- Romanian Journal of Pediatrics / Revista Romana de Pediatrie, 2015, v. 64, n. 3, p. 289, doi. 10.37897/rjp.2015.3.11
- Iurian, Sorin Ioan;
- Arts, Heleen;
- Brunner, Han;
- Fintina, Dana
- Article
33
- Nature Genetics, 2012, v. 44, n. 5, p. 481, doi. 10.1038/ng.2267
- Article
34
- 2008
- Leitch, Carmen C;
- Zaghloul, Norann A;
- Davis, Erica E;
- Stoetzel, Corinne;
- Diaz-Font, Anna;
- Rix, Suzanne;
- Al-Fadhel, Majid;
- Lewis, Richard Alan;
- Eyaid, Wafaa;
- Banin, Eyal;
- Dollfus, Helene;
- Beales, Philip L;
- Badano, Jose L;
- Katsanis, Nicholas
- Correction Notice
35
- Nature Genetics, 2008, v. 40, n. 4, p. 443, doi. 10.1038/ng.97
- Leitch, Carmen C.;
- Zaghloul, Norann A.;
- Davis, Erica E.;
- Stoetzel, Corinne;
- Diaz-Font, Anna;
- Rix, Suzanne;
- Al-Fadhel, Majid;
- Lewis, Richard Alan;
- Eyaid, Wafaa;
- Banin, Eyal;
- Dollfus, Helene;
- Beales, Philip L.;
- Badano, Jose L.;
- Katsanis, Nicholas
- Article
36
- Nature Genetics, 2007, v. 39, n. 7, p. 818, doi. 10.1038/ng0707-818
- Article
37
- Nature Genetics, 2006, v. 38, n. 5, p. 521, doi. 10.1038/ng1771
- Stoetzel, Corinne;
- Laurier, Virginie;
- Davis, Erica E.;
- Muller, Jean;
- Rix, Suzanne;
- Badano, José L;
- Leitch, Carmen C.;
- Salem, Nabiha;
- Chouery, Eliane;
- Corbani, Sandra;
- Jalk, Nadine;
- Vicaire, Serge;
- Sarda, Pierre;
- Hamel, Christian;
- Lacombe, Didier;
- Holder, Muriel;
- Odent, Sylvie;
- Holder, Susan;
- Brooks, Alice S.;
- Elcioglu, Nursel H.
- Article
38
- Nature Genetics, 2006, v. 38, n. 3, p. 363, doi. 10.1038/ng1739
- Ho Yi Mak;
- Nelson, Laura S.;
- Basson, Michael;
- Johnson, Carl D.;
- Ruvkun, Gary
- Article
39
- Nature Genetics, 2005, v. 37, n. 10, p. 1135, doi. 10.1038/ng1644
- Ross, Alison J.;
- May-Simera, Helen;
- Eichers, Erica R.;
- Kai, Masatake;
- Hill, Josephine;
- Jagger, Daniel J.;
- Leitch, Carmen C.;
- Chapple, J. Paul;
- Munro, Peter M.;
- Fisher, Shannon;
- Tan, Perciliz L.;
- Phillips, Helen M.;
- Leroux, Michel R.;
- Henderson, Deborah J.;
- Murdoch, Jennifer N.;
- Copp, Andrew J.;
- Eliot, Marie-Madeleine;
- Lupski, James R.;
- Kemp, David T.;
- Dollfus, Hélène
- Article
40
- Nature Genetics, 2004, v. 36, n. 5, p. 462, doi. 10.1038/ng1352
- Kim, Jun Chul;
- Badano, Jose L;
- Sibold, Sonja;
- Esmail, Muneer A;
- Hill, Josephine;
- Hoskins, Bethan E;
- Leitch, Carmen C;
- Venner, Kerrie;
- Ansley, Stephen J;
- Ross, Alison J;
- Leroux, Michel R;
- Katsanis, Nicholas;
- Beales, Philip L
- Article
41
- Nature Genetics, 2002, v. 31, n. 4, p. 435, doi. 10.1038/ng935
- Mykytyn, Kirk;
- Nishimura, Darryl Y.;
- Searby, Charles C.;
- Shastri, Mythreyi;
- Yen, Hsan-jan;
- Beck, John S.;
- Braun, Terry;
- Streb, Luan M.;
- Cornier, Alberto S.;
- Cox, Gerald F.;
- Fulton, Anne B.;
- Carmi, Rivka;
- Lüleci, Güven;
- Chandrasekharappa, Settara C.;
- Collins, Francis S.;
- Jacobson, Samuel G.;
- Heckenlively, John R.;
- Weleber, Richard G.;
- Stone, Edwin M.;
- Sheffield, Val C.
- Article
42
- Nature Genetics, 2001, v. 28, n. 2, p. 193, doi. 10.1038/88931
- Article
43
- Nature Genetics, 2000, v. 26, n. 1, p. 15, doi. 10.1038/79116
- Slavotinek, Anne M.;
- Stone, Edwin M.;
- Mykytyn, Kirk;
- Heckenlively, John R.;
- Green, Jane S.;
- Heon, Elise;
- Musarella, Maria A.;
- Parfrey, Patrick S.;
- Sheffield, Val C.;
- Biesecker, Leslie G.
- Article
44
- Nature Genetics, 2000, v. 26, n. 1, p. 67, doi. 10.1038/79201
- Katsanis, Nicholas;
- Beales, Philip L.;
- Woods, Michael O.;
- Lewis, Richard A.;
- Green, Jane S.;
- Parfrey, Patrick S.;
- Ansley, Stephen J.;
- Davidson, William S.;
- Lupski, James R.
- Article
45
- Turkish Journal of Pediatrics, 2011, v. 53, n. 4, p. 460
- Aksoy, Ayşe;
- Karagüzell, Gülay;
- Akbulut, Ulaş;
- Türk, Adem
- Article
46
- 2025
- Yu, Minzhong;
- Vieta-Ferrer, Emile R.;
- Bakdalieh, Anas;
- Tsai, Travis
- Literature Review
47
- 2017
- Myers, Mark H.;
- Iannaccone, Alessandro;
- Bidelman, Gavin M.
- journal article
48
- Indian Journal of Medical Research, 2018, v. 147, n. 2, p. 177, doi. 10.4103/ijmr.IJMR_1822_15
- Chandrasekar, Sathya;
- Namboothiri, Sheela;
- Sen, Parveen;
- Sarangapani, Sripriya
- Article
49
- 2012
- Kumar, Sumir;
- Mahajan, Bharat B.;
- Mittal, Jyotisterna
- Case Study
50
- PLoS Biology, 2020, v. 18, n. 2, p. 1, doi. 10.1371/journal.pbio.3000620
- Liu, Pengfei;
- Dodson, Matthew;
- Fang, Deyu;
- Chapman, Eli;
- Zhang, Donna D.
- Article