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Lancet, The, ISSN 0140-6736, 2011, Volume 377, Issue 9780, pp. 1837 - 1845
Journal Article
Nature Genetics, ISSN 1061-4036, 05/2015, Volume 47, Issue 5, pp. 528 - 534
Journal Article
Science, ISSN 0036-8075, 2014, Volume 343, Issue 6170, pp. 506 - 511
Journal Article
ELife, ISSN 2050-084X, 2015, Volume 4, Issue MAY, pp. e06602 - 37
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 10/2019, p. jmedgenet-2019-106409
BackgroundProtein disulfide isomerase (PDI) proteins are part of the thioredoxin protein superfamily. PDIs are involved in the formation and rearrangement of... 
Journal Article
Science Translational Medicine, ISSN 1946-6234, 2012, Volume 4, Issue 138, pp. 138ra78 - 138ra78
The translation of "next-generation" sequencing directly to the clinic is still being assessed but has the potential for genetic diseases to reduce costs,... 
MEDICINE, RESEARCH & EXPERIMENTAL | DE-NOVO | MISSENSE | GENE | STANDARDS | PONTOCEREBELLAR HYPOPLASIA | DISORDERS | MUTATIONS | ALPHA-MANNOSIDOSIS | MAP | COPY-NUMBER VARIATION | CELL BIOLOGY | Exome - genetics | Pedigree | Humans | Vesicular Transport Proteins - genetics | Female | Male | Mutation | Sequence Analysis, DNA
Journal Article
by Scott, Eric M and Halees, Anason and Itan, Yuval and Spencer, Emily G and He, Yupeng and Azab, Mostafa Abdellateef and Gabriel, Stacey B and Belkadi, Aziz and Boisson, Bertrand and Abel, Laurent and Clark, Andrew G and Rahim, Sohair Abdel and Alkuraya, Fowzan S and Casanova, Jean-Laurent and Gleeson, Joseph G and Abdou, Mohammed and Abhytankar, Avinash and Adimi, Parisa and Ahmad, Jamil and Akcakus, Mustafa and Aksu, Guside and Al Hajjar, Sami and Al Juamaah, Suliman and Al Muhsen, Saleh and Al Sannaa, Nouriya and Al Tameni, Salem and Al-Aama, Jumana and Al-Allawi, Nasir and Al-Baradie, Raidah and Al-Gazali, Lihadh and Al-Hashem, Amal and Al-Herz, Waleed and Al-Jeaid, Deema and Al-Tawari, Asma and Alangari, Abdullah and Alcais, Alexandre and AlFawaz, Tariq S and Alsum, Zobaida and Ammar-Khodja, Aomar and Amouian, Sepideh and Arikan, Cigdem and Aryani, Omid and Aslanger, Ayca and Aydogmus, Cigdem and Aytekin, Caner and Azam, Matloob and Bansagi, Boglarka and Barbouche, Mohamed-Rhida and Bastaki, Laila and Ben-Omran, Tawfeg and Bindu, Parayil Sankaran and Blancas, Lizbeth and Boisson-Dupuis, Stéphanie and Bonnet, Damien and Stambouli, Omar Boudghene and Bousfiha, Aziz and Boussafara, Lobna and Boutros, Jeannette and Bustamante, Jacinta and Caksen, Huseyin and Camcioglu, Yildiz and Catherinot, Emilie and Celik, Fatma C and Ciancanelli, Michael and Cipe, Funda E and Clark, Gary and Cobat, Aurélie and Comu, Sinan and Condie, Angela and Condino-Neto, Antonio and Desai, Mukesh and Dobyns, William and Dogu, Figen and Domaia, Mohamed and Dorum, Meltem and Egritas, Odul and El Azbaoui, Safa and El Baghdadi, Jamila and El Ruby, Mona and El-Harouni, Ashraf and Elfeky, Reem A and Elghazali, Gehad and Faqeih, Eissa and Fenerci, Elif and Fieschi, Claire and Funda, Cipe and Gamal, Iman and Gelik, Umit and Genel, Fetah and Gezdirici, Alper and Girisha, Katta M and Goldstein, Amy and Grattan-Smith, Padraic and Gupta, Neerja and Hahn, Jin and Hatipoglu, Nevin and Hennekam, Raoul and Houshmand, Massoud and Ichai, Philippe and Ikinciogullari, Aydan and ... and Greater Middle East Variome Consortium
Nature Genetics, ISSN 1061-4036, 09/2016, Volume 48, Issue 9, pp. 1071 - 1079
Journal Article
Journal of Pediatric Hematology/Oncology, ISSN 1077-4114, 01/2010, Volume 32, Issue 1, pp. e14 - e18
Lymphoma is the third most common childhood malignancy. Less information is available on this disease and its outcome from our country. We present here a... 
Lymphoma | Outcome | Childhood | Developing country | Lymphoma - epidemiology | Lymphoma - diagnosis | Pakistan | Humans | Hospitals, University | Female | Male | Survival Rate | Retrospective Studies | Child | Cause of Death | Lymphoma - mortality | Index Medicus
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 10/2016, Volume 99, Issue 4, pp. 912 - 916
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 10/2016, Volume 99, Issue 4, p. 912
  The risk of epilepsy among individuals with intellectual disability (ID) is approximately ten times that of the general population. From a cohort of >5,000... 
Autism | Enzymes | Membranes | Intellectual disabilities | Epilepsy | Mutation
Journal Article