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Cell Reports, ISSN 2211-1247, 01/2015, Volume 10, Issue 2, pp. 148 - 161
Journal Article
Human Genetics, ISSN 0340-6717, 03/2015, Volume 134, Issue 4, pp. 451 - 453
Stickler syndrome (SS) is a collagenopathy characterized by arthropathy and vitreoretinopathy with high myopia and cleft palate as common features. In a family... 
GENETICS & HEREDITY | Amino Acid Sequence | Humans | Molecular Sequence Data | Male | Arthritis | Collagen Diseases - genetics | Mutation, Missense | Hearing Loss, Sensorineural | Genes, Recessive | Amino Acid Oxidoreductases - genetics | Connective Tissue Diseases | Retinal Detachment | Pedigree | Base Sequence | Adolescent | Family | Female | Consanguinity | Child | Oxidases | Collagen
Journal Article
Annals of Neurology, ISSN 0364-5134, 02/2018, Volume 83, Issue 2, pp. 433 - 436
Neural tube defects (NTDs) are among the most common birth defects in humans and yet their molecular etiology remains poorly understood. NTDs are believed to... 
CHROMATIN REMODELING COMPLEX | PROTEIN | BIOLOGY | CLOSURE | MICE | NEUROSCIENCES | CLINICAL NEUROLOGY | Congenital defects | Neural tube defects | Health risks | Environmental factors | Birth defects | Risk analysis | Risk factors | Chromatin remodeling | Encephalocele | Etiology | Alleles | Exencephaly | Twins
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 09/2019
Journal Article
Annals of Neurology, ISSN 0364-5134, 02/2018, Volume 83, Issue 2, pp. 433 - 436
Journal Article
Human Genetics, ISSN 0340-6717, 11/2017, Volume 136, Issue 11, pp. 1419 - 1429
Journal Article
by Bhangu, Aneel and Ademuyiwa, Adesoji O and Aguilera, Maria Lorena and Alexander, Philip and Al-Saqqa, Sara W and Borda-Luque, Giuliano and Costas-Chavarri, Ainhoa and Drake, Thomas M and Ntirenganya, Faustin and Fitzgerald, J Edward and Fergusson, Stuart J and Glasbey, James and Ingabire, JC Allen and Ismaïl, Lawani and Salem, Menatalla and Salem, Hosni Khairy and Kojo, Anyomih Theophilus Teddy and Lapitan, Marie Carmela and Lilford, Richard and Mihaljevic, Andre L and Morton, Dion and Mutabazi, Alphonse Zeta and Nepogodiev, Dmitri and Adisa, Adewale O and Ots, Riinu and Pata, Giacomo and Pata, Domenica and Pata, Francesco and Pinkney, Thomas and Poškus, Tomas and Qureshi, Mobeen and Qureshi, Ahmad Uzair and Ramos-De la Medina, Antonio and Rayne, Sarah and Shaw, Catherine A and Shu, Sebestian and Shu, Sebastian and Spence, Richard and Smart, Neil and Tabiri, Stephen and Harrison, Ewen M and Khatri, Chetan and Mohan, Midhun and Jaffry, Zahra and Altamini, Afnan and Kirby, Andrew and Søreide, Kjetil and Søreide, Jon Arne and Recinos, Gustavo and Cornick, Jen and Modolo, Maria Marta and Iyer, Dush and Iyer, Dushyant and King, Sebastian and Arthur, Tom and Nahar, Sayeda Nazmum and Waterman, Ade and Walsh, Michael and Agarwal, Arnav and Zani, Augusto and Firdouse, Mohammed and Rouse, Tyler and Liu, Qinyang and Correa, Juan Camilo and Talving, Peep and Worku, Mengistu and Worku, Tewodros and Arnaud, Alexis and Arnaud, Alexis Pierre and Kalles, Vasileios and Kalles, Vassilis and Kumar, Basant and Kumar, Sunil and Kumar, Sandip and Amandito, Radhian and Quek, Roy and Ansaloni, Luca and Altibi, Ahmed and Venskutonis, Donatas and Zilinskas, Justas and Poskus, Tomas and Whitaker, John and Msosa, Vanessa and Tew, Yong Yong and Farrugia, Alexia and Borg, Elaine and Bentounsi, Zineb and Gala, Tanzeela and Al-Slaibi, Ibrahim and Tahboub, Haya and Alser, Osaid H and Romani, Diego and Major, Piotr and Mironescu, Aurel and Mironescu, Aurel Sandu and Bratu, Matei and Bratu, Matei Razvan and Kourdouli, Amar and Ndajiwo, Aliyu and Altwijri, Abdulaziz and ... and GlobalSurg Collaborative
The Lancet Infectious Diseases, ISSN 1473-3099, 05/2018, Volume 18, Issue 5, pp. 516 - 525
Journal Article