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Journal Article
Journal Article
Journal of Clinical Research in Pediatric Endocrinology, ISSN 1308-5727, 09/2015, Volume 7, Issue 2
  Prader-Willi syndrome (PWS), first described in 1956, is a common and complex disorder affecting multiple systems. PWS is due to absence of paternally... 
Journal Article
Journal of Clinical Research in Pediatric Endocrinology, ISSN 1308-5727, 09/2015, Volume 7, Issue 2
  Spondylocostal dysostosis (SCD), in other words Jarcho-Levin syndrome, is a hereditary syndrome presented clinically as short stature. It is characterized by... 
Journal Article
Gazi Medical Journal, ISSN 1300-056X, 12/2008, Volume 19, Issue 4, pp. 190 - 192
Journal Article
Gazi Medical Journal, ISSN 1300-056X, 2008, Volume 19, Issue 4, pp. 190 - 192
Pulmoner ödem birçok nedene bağlı olarak ortaya çıkabilen alveolar boslukta ve interstisyumda asırı derecede sıvı birikimi ile karakterize bir tablo olup akut... 
Journal Article
by Ötünçtemur, Alper and Çakır, Süleyman Sami and Dursun, Murat and Polat, Emre Can and Somay, Adnan and Somay, Adnan and Özbay, Nurver and Özbay, Nurver and Çekmen, Mustafa and Lee, Ming Chak and Brooks, Andrew and Drummond, Malcolm and Lau, Howard and Patel, Manish and Wang, Audrey and Woo, Henry and Kim, Hyun Jin and Averch, Timothy D and Averch, Timothy D and Kim, Hyung and Yildirim, Ibrahim and Tapan, Serkan and Aydur, Emin and Tahmaz, Lutfu and Dayanc, Murat and Olweny, Ephrem O and Faddegon, Stephen and Faddegon, Stephen and Best, Sara L and Jackson, Neil and Wehner, Eleanor F and Tan, Yung K and Tan, Yung K and Zuzak, Karel J and Cadeddu, Jeffrey A and Cadeddu, Jeffrey A and Cadeddu, Jeffrey A and Tan, Yung Khan and Olweny, Ephrem O and Liu, Zhou Wei and Kapur, Payal and Faddegon, Steve and Yin, Gang and Cadeddu, Jeffrey and Park, Jane Hyeon and Castillo, Josefino Cortez and Morales Jr, Marcelino Lopeztan and Colli, Janet and Wang, Zijun and Keel, Christopher and Lee, Benjamin R and Dilli, Alper and Zengin, Kürşad and Yalçınkaya, Fatih and Yiğitbaşı, Orhan and Sertçelik, Memduh Nurettin and Arıdoğan, Ibrahim Atilla and Izol, Volkan and Acıkalın, Arbil and Abat, Deniz and Tuli, Abdullah and Bayazıt, Yıldırım and Resorlu, Berkan and Unsal, Ali and Saitz, Theodore and Grossman, Leah and Dorsey, Philip and Pedersen, Ditte and Lund, Martin and Marcussen, Niels and Lund, Lars and Graversen, Joseph A and Wikenheiser, Jamie and Kerkoutian, Susan and Abdelshehid, Corollos and Abdelshehid, Corollos and Alipanah, Reza and Quach, Stephen and Zarraga, Jerome P and Gerbatsch, Isabelle and Huang, Jiaoti and Landman, Jaime and Landman, Jaime and Kyriazis, Iason and Kagadis, George and Loudos, George and Kallidonis, Panagiotis and Kallidonis, Panagiotis and Georgiopoulos, Ioannis and Liourdi, Despoina and Apostolopoulos, Dimitris and Nikiforidis, George and Liatsikos, Evangelos and Liatsikos, Evangelos and Fishman, Andrew and Dorai, Thambi and Dorai, Thambi and Ding, Cheng and Haberle, Ines Batinic and Grasso, Michael and ...
Journal of Endourology, ISSN 0892-7790, 09/2012, Volume 26, Issue S1, pp. P1 - A572
Journal Article
Orphanet journal of rare diseases, 09/2015, Volume 10, p. 128
3MC1 syndrome is a rare autosomal recessive disorder characterized by intellectual disability, short stature and distinct craniofacial, umbilical, and sacral... 
Humans | Child, Preschool | Infant | Male | Mutation - genetics | Syndrome | Young Adult | Phenotype | Abnormalities, Multiple - diagnosis | Mannose-Binding Protein-Associated Serine Proteases - genetics | Adolescent | Female | Child | Abnormalities, Multiple - genetics
Journal Article
by Dinçer, Mustafa and Çelik, Cemil and Helvalı, Elif Ecem and Bodur, Şahin and Akçaer, Emine Tuğçe and Can, Serdar Süleyman and Uğurlu, Görkem Karakaş and İslamoğlu, Sümeyye and Kaymak, Semra Ulusoy and Taştorun, Yasemin and Peker, Oğuz and Çayköylü, Ali and Soğucak, Zehra Ece and Adanır, Aslı Sürer and Özatalay, Esin and Önder, Arif and Başaran, Abdurrahman Erdem and Bingöl, Ayşen and Akdağ, Berhan and Atagün, Murat İlhan and Doğan, Yakup and Bilaç, Öznur and Kavurma, Canem and Taşkıran, Gülseren and Erdem, Aybike and Kocagöz, Zehra Başar and Özçetin, Adnan and Ataoğlu, Ahmet and Toraman, Merve Çavdar and Özçelik, Özgen and Kara, Hüseyin and Tomar, Talya and Cinemre, Buket and Tokgöz, Yusuf and Öznur, Taner and Bolu, Abdullah and Uzun, Özcan and İnanlı, İkbal and Altunova, Deniz and Çalışkan, Ali Metehan and Eren, İbrahim and Elmas, Tüba Şerife and Gökçenoğlu, Yasemin and Çalışır, Saliha and Tanrıkulu, Ali Baran and Bozdoğan, Şenay Yıldız and Şahin, Fatma and Çamur, Ceren and Gündoğmuş, İbrahim and Karagöz, Abdulkadir and Algül, Ayhan and Doneray, Ebru and Yazici, Ipek Percinel and Yazici, Kemal Utku and Adanır, Aslı and Işıldar, Yetiş and Sağlam, Ebru and Bilgiç, Ayhan and Akbaş, Betül and Çelikkol, Çağla and Öztürrk, Seher Serez and Seven, Hilal and Demiröz, Dudu and Özbek, Seda and Çiçek, İsmet Esra and Coşkun, Fatma and Akça, Ömer Faruk and Sevinçok, Doğa and Memiş, Çağdaş Öykü and Çakaloz, Burcu and İlhan, Bilge Çetin and Elmas, Tuba Şerife and Yaşar, Azra Sehure and Yağlı, Nafiye and Ak, Osman and Başaran, Recep and Balcı, Mehmet Murat and Kuloğlu, Mehmet Murat and Taş, İbrahim and Yaşar, Sehure Azra and Yıldız, Mustafa Çağrı and Çiftçi, Ebru and Guler, Hasan Ali and Kandeger, Ali and Guler, Dilara and Turkoglu, Serhat and Küçük, Önder and Yaylacı, Ferhat and Erkuran, Handan Özek and Gürsoy, Betül Kurtses and Öztürk, Seher Serez and Ünal, Berrin and Aral, Gizem and Karagüzel, Evrim Özkorumak and Aykut, Demet Sağlam and Arslan, Filiz Civil and Karagöz, Ezgi and İnaloğlu, Neslihan Emir and Uzun, Necati and Özbek, Mutlu Muhammed and ...
Psychiatry and Clinical Psychopharmacology, ISSN 2475-0573, 04/2018, Volume 28, Issue sup1, pp. 114 - 270
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 09/2015, Volume 10, Issue 1, pp. 128 - 128
Background: 3MC1 syndrome is a rare autosomal recessive disorder characterized by intellectual disability, short stature and distinct craniofacial, umbilical,... 
3MC syndrome | Complement | Lectin pathway | MASP-1 | MASP-3 | MEDICINE, RESEARCH & EXPERIMENTAL | GENETICS & HEREDITY | Blepharoptosis | Care and treatment | Gene mutations | Analysis | Lectins | Influence | Research | Enzymes | Genetic aspects | Nucleotide sequencing | Liver | DNA sequencing | Index Medicus
Journal Article
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