Works matching Achondroplasia
1
- Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03717-0
- Fauroux, Brigitte;
- AlSayed, Moeenaldeen;
- Ben-Omran, Tawfeg;
- Boero, Silvio;
- Boon, Mieke;
- Cormier-Daire, Valérie;
- Fredwall, Svein;
- Guillen-Navarro, Encarna;
- Irving, Melita;
- Kunkel, Philip;
- Madureira, Núria;
- Maghnie, Mohamad;
- Milerad, Josef;
- Mohnike, Klaus;
- Mortier, Geert;
- Nobili, Lino;
- Pejin, Zagorka;
- Sessa, Marco;
- Sousa, Sérgio B.
- Article
2
- Pediatric Endocrinology, Diabetes & Metabolism, 2007, v. 13, n. 3, p. 121
- Shadi, Milud;
- Koczewski, Pawel
- Article
3
- 2021
- Hoover-Fong, Julie E.;
- Schulze, Kerry J.;
- Alade, Adekemi Y.;
- Bober, Michael B.;
- Gough, Ethan;
- Hashmi, S. Shahrukh;
- Hecht, Jacqueline T.;
- Legare, Janet M.;
- Little, Mary Ellen;
- Modaff, Peggy;
- Pauli, Richard M.;
- Rodriguez-Buritica, David F.;
- Serna, Maria E.;
- Smid, Cory;
- Liu, Chengxin;
- McGready, John
- journal article
4
- 2021
- Cormier-Daire, Valerie;
- AlSayed, Moeenaldeen;
- Ben-Omran, Tawfeg;
- de Sousa, Sérgio Bernardo;
- Boero, Silvio;
- Fredwall, Svein O.;
- Guillen-Navarro, Encarna;
- Irving, Melita;
- Lampe, Christian;
- Maghnie, Mohamad;
- Mortier, Geert;
- Peijin, Zagorka;
- Mohnike, Klaus
- journal article
5
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02795-2
- Irving, Melita;
- AlSayed, Moeenaldeen;
- Arundel, Paul;
- Baujat, Geneviève;
- Ben-Omran, Tawfeg;
- Boero, Silvio;
- Cormier-Daire, Valérie;
- Fredwall, Svein;
- Guillen-Navarro, Encarna;
- Hoyer-Kuhn, Heike;
- Kunkel, Philip;
- Lampe, Christian;
- Maghnie, Mohamad;
- Mohnike, Klaus;
- Mortier, Geert;
- Sousa, Sérgio B.
- Article
6
- Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03621-7
- Guillen-Navarro, Encarna;
- AlSayed, Moeenaldeen;
- Alves, Inês;
- Ben-Omran, Tawfeg;
- Boero, Silvio;
- Cormier-Daire, Valérie;
- Fauroux, Brigitte;
- Fredwall, Svein;
- Irving, Melita;
- Kunkel, Philip;
- Lampe, Christian;
- Lausch, Ekkehart;
- Maghnie, Mohamad;
- Mohnike, Klaus;
- Mortier, Geert;
- Pejin, Zagorka;
- Sessa, Marco;
- Sousa, Sérgio B.
- Article
7
- Journal of Dental Research & Review, 2022, v. 9, n. 3, p. 261, doi. 10.4103/jdrr.jdrr_40_22
- Govindraj, Varun;
- Datana, Sanjeev;
- Sharma, Mohit;
- Chauhan, Deepak
- Article
8
- Journal of Assisted Reproduction & Genetics, 2011, v. 28, n. 2, p. 167, doi. 10.1007/s10815-010-9489-1
- Lim, Ji;
- Kim, Mee;
- Kim, Shin;
- Kim, Hye;
- Song, Mee;
- Kim, Min;
- Park, So;
- Yang, Jae;
- Ryu, Hyun
- Article
9
- JMIR Rehabilitation & Assistive Technologies, 2024, v. 11, p. 1, doi. 10.2196/49261
- Trofimchuk, Vitaliy;
- Dossanov, Bolatbek;
- Lozovoy, Vassiliy;
- Khmyzov, Sergey;
- Dossanova, Assem;
- Angelov, Aleksandr;
- Pashenko, Andrey;
- Zhukenov, Olzhas
- Article
10
- JA Clinical Reports, 2023, v. 9, n. 1, p. 1, doi. 10.1186/s40981-023-00628-6
- Yoshizawa, Shuto;
- Nomoto, Yukio;
- Nemoto, Chiaki;
- Inoue, Satoki
- Article
11
- Korean Journal of Audiology, 2013, v. 17, n. 3, p. 142, doi. 10.7874/kja.2013.17.3.142
- Jongyoon Jung;
- Chulwon Yang;
- Sunkyu Lee;
- June Choi
- Article
12
- 2011
- Del Pino, Mariana;
- Fano, Virginia;
- Lejarraga, Horacio
- journal article
13
- Genes, 2023, v. 14, n. 1, p. 199, doi. 10.3390/genes14010199
- Sforza, Elisabetta;
- Margiotta, Gaia;
- Giorgio, Valentina;
- Limongelli, Domenico;
- Proli, Francesco;
- Kuczynska, Eliza Maria;
- Leoni, Chiara;
- De Rose, Cristina;
- Trevisan, Valentina;
- Romeo, Domenico Marco;
- Calandrelli, Rosalinda;
- De Corso, Eugenio;
- Massimi, Luca;
- Palmacci, Osvaldo;
- Rigante, Donato;
- Zampino, Giuseppe;
- Onesimo, Roberta
- Article
14
- Application of Clinical Genetics, 2014, v. 7, p. 117, doi. 10.2147/TACG.S51485
- Ireland, Penny J.;
- Pacey, Verity;
- Zankl, Andreas;
- Edwards, Priya;
- Johnston, Leanne M.;
- Savarirayan, Ravi
- Article
15
- 2015
- Ahoor, M. H.;
- Amizadeh, Y.;
- Sorkhabi, R.
- Case Study
16
- 2017
- Nakanishi, Keisuke;
- Kawasaki, Shiori;
- Amano, Atsushi
- journal article
17
- PLoS ONE, 2018, v. 13, n. 4, p. 1, doi. 10.1371/journal.pone.0195876
- Saint-Laurent, Celine;
- Garcia, Stephanie;
- Sarrazy, Vincent;
- Dumas, Karine;
- Authier, Florence;
- Sore, Sophie;
- Tran, Albert;
- Gual, Philippe;
- Gennero, Isabelle;
- Salles, Jean-Pierre;
- Gouze, Elvire
- Article
18
- Pediatric Endocrinology, Diabetes & Metabolism, 2008, v. 14, n. 4, p. 237
- Arasimowicz, Elżbieta;
- Syczewska, MaŁgorzata
- Article
19
- Acta Paediatrica, 2021, v. 110, n. 6, p. 1842, doi. 10.1111/apa.15760
- Legare, Janet M.;
- Smid, Cory J.;
- Modaff, Peggy;
- Pauli, Richard M.
- Article
20
- 2019
- Saint-Laurent, Celine;
- Garde-Etayo, Laura;
- Gouze, Elvire
- journal article
22
- Baylor University Medical Center Proceedings, 2024, v. 37, n. 1, p. 63, doi. 10.1080/08998280.2023.2261084
- Dumitrascu, Catalina Ioana;
- Eneh, Peace Nnenna;
- Keim, Audrey Anne;
- Kraus, Molly Boyle;
- Sharpe, Emily Elizabeth
- Article
23
- Baylor University Medical Center Proceedings, 2021, v. 34, n. 3, p. 419, doi. 10.1080/08998280.2020.1868245
- Kochar, Puneet S.;
- Soin, Priti;
- Megahed, Ayah
- Article
24
- Reproductive BioMedicine Online (Reproductive Healthcare Limited), 2008, v. 16, n. 2, p. 276, doi. 10.1016/S1472-6483(10)60586-X
- Altarescu, Gheona;
- Renbaum, P.;
- Brooks P., B.;
- Margalioth, E. J.;
- Chetrit, A. Ben;
- Munter, G.;
- Levy-Lahad, E.;
- Eldar-Geva, T.
- Article
25
- JA Clinical Reports, 2019, v. 5, n. 1, p. N.PAG, doi. 10.1186/s40981-019-0267-5
- Nakanishi, Toshiyuki;
- Yoshimura, Manabu;
- Toriumi, Takashi
- Article
26
- Journal of the Egyptian Ophthalmological Society, 2023, v. 116, n. 4, p. 277, doi. 10.4103/ejos.ejos_61_23
- El-Mofty, Randa M. A. M.;
- Hassan, Mai M. I.
- Article
27
- Frontiers in Physiology, 2018, p. 1, doi. 10.3389/fphys.2018.00867
- Sims, David T.;
- Onambélé-Pearson, Gladys L.;
- Burden, Adrian;
- Payton, Carl;
- Morse, Christopher I.
- Article
28
- Indian Journal of Medical Specialities, 2022, v. 13, n. 3, p. 188, doi. 10.4103/injms.injms_144_21
- Das, Debasish;
- Banerjee, Anindya;
- Kumar, Abhinav;
- Das, Tutan;
- Singh, Shashikant;
- Gupta, Jaideep Das;
- Dixit, Manaranjan
- Article
30
- Malaysian Family Physician, 2024, p. 1, doi. 10.51866/cr.698
- Mohd Fudzi, Wan Fadzleen Ezyani;
- Yaacob, Lili Husniati;
- Rahman, Razlina Abdul;
- Lau, Chiew Chea
- Article
31
- Acta Medica Iranica, 2017, v. 55, n. 8, p. 536
- Shirazi, Mahbooheh;
- Golshahi, Fateme;
- Teimoory, Nastaran
- Article
32
- 2024
- Rai, Yurie;
- Ogiwara, Hideki
- Case Study
33
- Child's Nervous System, 2023, v. 39, n. 12, p. 3491, doi. 10.1007/s00381-023-06005-z
- Zhang, Catherine H.;
- D'Arco, Felice;
- Borghi, Alessandro;
- Picariello, Stefania;
- Cheung, Moira;
- Irving, Melita;
- Thompson, Dominic
- Article
34
- Child's Nervous System, 2023, v. 39, n. 1, p. 229, doi. 10.1007/s00381-022-05566-9
- Afshari, Fardad T.;
- Slator, Naomi;
- Fayeye, Oluwafikayo;
- Ramakrishnan, Piravin K.;
- Solanki, Guirish A.
- Article
35
- 2022
- Afshari, Fardad T.;
- Parida, Amitav;
- Debenham, Phillip;
- Solanki, Guirish A.
- Case Study
36
- Child's Nervous System, 2022, v. 38, n. 6, p. 1147, doi. 10.1007/s00381-022-05484-w
- Calandrelli, Rosalinda;
- Pilato, Fabio;
- D'Apolito, Gabriella;
- Tenore, Lorenzo;
- Onesimo, Roberta;
- Leoni, Chiara;
- Zampino, Giuseppe;
- Colosimo, Cesare
- Article
37
- Child's Nervous System, 2021, v. 37, n. 12, p. 3907, doi. 10.1007/s00381-021-05129-4
- Shoda, Kenji;
- Ohe, Naoyuki;
- Sasai, Hideo;
- Miyai, Masafumi;
- Ohnishi, Hidenori;
- Iwama, Toru
- Article
38
- Child's Nervous System, 2015, v. 31, n. 5, p. 743, doi. 10.1007/s00381-015-2624-7
- Shimony, Nir;
- Ben-Sira, Liat;
- Sivan, Yakov;
- Constantini, Shlomi;
- Roth, Jonathan
- Article
39
- Child's Nervous System, 2015, v. 31, n. 1, p. 129, doi. 10.1007/s00381-014-2559-4
- Bosemani, Thangamadhan;
- Orman, Gunes;
- Hergan, Benedikt;
- Carson, Kathryn;
- Huisman, Thierry;
- Poretti, Andrea
- Article
40
- Journal of Human Genetics, 2004, v. 49, n. 8, p. 399, doi. 10.1007/s10038-004-0165-0
- Yi-Ning Su;
- Chien-Nan Lee;
- Shu-Chin Chien;
- Chia-Cheng Hung;
- Yin-Hsiu Chien;
- Chi-An Chen
- Article
41
- Cleft Palate Craniofacial Journal, 2011, v. 48, n. 5, p. 631, doi. 10.1597/09-266
- Hubbard, Bradley A.;
- Gorski, Jerome L.;
- Muzaffar, Arshad R.
- Article
42
- Acta Medica Marisiensis, 2019, v. 65, p. 105
- Andreea-Georgiana, Caranica;
- Daniela, Chelaru;
- Oana, Catalina Mihaela;
- Cristina-Ioana, Antochie;
- Larisia, Mihai
- Article
43
- Colombian Journal of Anesthesiology / Revista Colombiana de Anestesiología, 2012, v. 40, n. 4, p. 309
- Osorio Rudasa, Walter;
- Socha García, Nury Isabel;
- Upegui, Alejandro;
- Ríos Medina, Ángela;
- Moran, Adrian;
- Aguirre Ospina, Oscar;
- Rivera, Carlos
- Article
44
- Journal of Indian Society of Periodontology, 2012, v. 16, n. 1, p. 138, doi. 10.4103/0972-124X.94624
- Chawla, Kirti;
- Lamba, Arundeep Kaur;
- Faraz, Farrukh;
- Tandon, Shruti
- Article
45
- Egyptian Journal of Medical Human Genetics, 2009, v. 10, n. 1, p. 13
- Aglan, Mona S.;
- Abdel-Aleem, Alice K.;
- EL-Katoury, Ahmed I. S.;
- Hafez, Mona H.;
- Saleem, Sahar N.;
- Otaify, Ghada A.;
- Temtamy, Samia A.
- Article
46
- Neonatal Network, 2017, v. 36, n. 6, p. 337, doi. 10.1891/0730-0832.36.6.337
- Article
47
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02652-2
- Maghnie, Mohamad;
- Semler, Oliver;
- Guillen-Navarro, Encarna;
- Selicorni, Angelo;
- Heath, Karen E.;
- Haeusler, Gabriele;
- Hagenäs, Lars;
- Merker, Andrea;
- Leiva-Gea, Antonio;
- González, Vanesa López;
- Raimann, Adalbert;
- Rehberg, Mirko;
- Santos-Simarro, Fernando;
- Ertl, Diana-Alexandra;
- Gregersen, Pernille Axél;
- Onesimo, Roberta;
- Landfeldt, Erik;
- Jarrett, James;
- Quinn, Jennifer;
- Rowell, Richard
- Article
48
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02641-5
- Fredwall, Svein O.;
- Linge, Jennifer;
- de Vries, Olga;
- Leinhard, Olof Dahlqvist;
- Eggesbø, Heidi Beate;
- Weedon-Fekjær, Harald;
- Petersson, Mikael;
- Widholm, Per;
- Månum, Grethe;
- Savarirayan, Ravi
- Article
49
- 2021
- Pfeiffer, Kathryn M.;
- Brod, Meryl;
- Smith, Alden;
- Viuff, Dorthe;
- Ota, Sho;
- Charlton, R. Will
- journal article
50
- Obesity Surgery, 2024, v. 34, n. 5, p. 1949, doi. 10.1007/s11695-024-07144-1
- de la Codre, Frédéric;
- Jacobi, David;
- Catheline, Jean-Marc;
- Khamphommala, Litavan;
- de Montrichard, Marie;
- Blanchard, Claire
- Article