X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (7) 7
index medicus (7) 7
male (5) 5
mutation (5) 5
proteins (4) 4
article (3) 3
child, preschool (3) 3
exome (3) 3
female (3) 3
genetics & heredity (3) 3
genome-wide association study (3) 3
mutations (3) 3
cell cycle proteins - genetics (2) 2
cells, cultured (2) 2
child (2) 2
cohort studies (2) 2
consanguinity (2) 2
exome sequencing (2) 2
family (2) 2
genes (2) 2
genetic disorders (2) 2
genetic research (2) 2
genome, human (2) 2
genomes (2) 2
heredity (2) 2
homozygote (2) 2
identification (2) 2
identification and classification (2) 2
infant (2) 2
localization (2) 2
methods (2) 2
microcephaly (2) 2
microcephaly - genetics (2) 2
microcephaly - pathology (2) 2
pediatrics (2) 2
phenotype (2) 2
proteins - metabolism (2) 2
research (2) 2
18q21.1 (1) 1
abridged index medicus (1) 1
activator protein (1) 1
admixture (1) 1
adolescent (1) 1
adult (1) 1
aged (1) 1
albumin (1) 1
alleles (1) 1
alzheimer's disease (1) 1
alzheimers-disease (1) 1
amyloid-beta protein (1) 1
analysis (1) 1
apoptosis (1) 1
aqueous humor (1) 1
aqueous humor - metabolism (1) 1
arabs (1) 1
articles (1) 1
asian continental ancestry group - genetics (1) 1
aurora kinase a - metabolism (1) 1
autozygome (1) 1
bardet-biedl syndrome (1) 1
bardet-biedl syndrome - genetics (1) 1
bbs gene (1) 1
bbs genes (1) 1
bile (1) 1
binding-protein (1) 1
biochemistry & molecular biology (1) 1
biomarker discovery (1) 1
biomedicine (1) 1
blotting, western (1) 1
brain organoids (1) 1
candidate genes (1) 1
caspase 7 - metabolism (1) 1
cataract - metabolism (1) 1
cell (1) 1
cell adhesion, polarity & cytoskeleton (1) 1
cell cycle (1) 1
cell cycle proteins - biosynthesis (1) 1
cell differentiation (1) 1
cell movement - genetics (1) 1
cell proliferation (1) 1
cerebral cortex (1) 1
charge (1) 1
cholestasis (1) 1
chondroitin sulfate proteoglycans - biosynthesis (1) 1
chondroitin sulfate proteoglycans - genetics (1) 1
chromatography, high pressure liquid (1) 1
chromosomal proteins, non-histone - biosynthesis (1) 1
chromosomal proteins, non-histone - genetics (1) 1
chromosomes (1) 1
cilia - genetics (1) 1
cilia - metabolism (1) 1
cilia - physiology (1) 1
cilia defects (1) 1
ciliary body (1) 1
cilium (1) 1
cit (1) 1
clinical genomics (1) 1
clinical neurology (1) 1
codon, nonsense (1) 1
congenital, hereditary, and neonatal diseases and abnormalities (1) 1
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Journal Article
Annals of Neurology, ISSN 0364-5134, 10/2017, Volume 82, Issue 4, pp. 562 - 577
Journal Article
Journal of Clinical Research in Pediatric Endocrinology, ISSN 1308-5727, 09/2015, Volume 7, Issue 2
  Achondrogenesis type 2/hypochondrogenesis is a rare cause of micromelic dwarfism in the neonatal period. Severe short stature, narrow chest, increased... 
Journal Article
by Monies, Dorota and Abouelhoda, Mohammed and Assoum, Mirna and Moghrabi, Nabil and Rafiullah, Rafiullah and Almontashiri, Naif and Alowain, Mohammed and Alzaidan, Hamad and Alsayed, Moeen and Subhani, Shazia and Cupler, Edward and Faden, Maha and Alhashem, Amal and Qari, Alya and Chedrawi, Aziza and Aldhalaan, Hisham and Kurdi, Wesam and Khan, Sameena and Rahbeeni, Zuhair and Alotaibi, Maha and Goljan, Ewa and Elbardisy, Hadeel and ElKalioby, Mohamed and Shah, Zeeshan and Alruwaili, Hibah and Jaafar, Amal and Albar, Ranad and Akilan, Asma and Tayeb, Hamsa and Tahir, Asma and Fawzy, Mohammed and Nasr, Mohammed and Makki, Shaza and Alfaifi, Abdullah and Akleh, Hanna and Yamani, Suad and Bubshait, Dalal and Mahnashi, Mohammed and Basha, Talal and Alsagheir, Afaf and Abu Khaled, Musad and Alsaleem, Khalid and Almugbel, Maisoon and Badawi, Manal and Bashiri, Fahad and Bohlega, Saeed and Sulaiman, Raashida and Tous, Ehab and Ahmed, Syed and Algoufi, Talal and Al-Mousa, Hamoud and Alaki, Emadia and Alhumaidi, Susan and Althagafi, Malak and Alghamdi, Hadeel and Alghamdi, Malak and Sahly, Ahmed and Nahrir, Shapar and Al-Ahmari, Ali and Alkuraya, Hisham and Alkuraya, Fowzan S and Almehaidib, Ali and Abanemai, Mohammed and Alsohaibaini, Fahad and Alsaud, Bandar and Arnaout, Rand and Abdel-Salam, Ghada M.H and Aldhekri, Hasan and AlKhater, Suzan and Alqadi, Khalid and Alsabban, Essam and Alshareef, Turki and Awartani, Khalid and Banjar, Hanaa and Alsahan, Nada and Abosoudah, Ibraheem and Alashwal, Abdullah and Aldekhail, Wajeeh and Alhajjar, Sami and Al-Mayouf, Sulaiman and Alsemari, Abdulaziz and Alshuaibi, Walaa and Altala, Saeed and Altalhi, Abdulhadi and Baz, Salah and Hamad, Muddathir and Abalkhail, Tariq and Alenazi, Badi and Alkaff, Alya and Almohareb, Fahad and Al Mutairi, Fuad and Alsaleh, Mona and Alsonbul, Abdullah and Alzelaye, Somaya and Bahzad, Shakir and Manee, Abdulaziz Bin and Jarrad, Ola and Meriki, Neama and Albeirouti, Bassem and Alqasmi, Amal and ...
The American Journal of Human Genetics, ISSN 0002-9297, 06/2019, Volume 104, Issue 6, pp. 1182 - 1201
We report the results of clinical exome sequencing (CES) on >2,200 previously unpublished Saudi families as a first-tier test. The predominance of... 
knockout | clinical genomics | hybrid phenotype | phenotypic expansion | multilocus phenotypes | fetal malformation | autozygome | genomics-first | exome | gonadal mosaicism | expanded carrier screening | candidate genes | first-tier | prenatal | dual diagnosis
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
by Monies, Dorota and Abouelhoda, Mohamed and AlSayed, Moeenaldeen and Alhassnan, Zuhair and Alotaibi, Maha and Kayyali, Husam and Al-Owain, Mohammed and Shah, Ayaz and Rahbeeni, Zuhair and Al-Muhaizea, Mohammad A and Alzaidan, Hamad I and Cupler, Edward and Bohlega, Saeed and Faqeih, Eissa and Faden, Maha and Alyounes, Banan and Jaroudi, Dyala and Goljan, Ewa and Elbardisy, Hadeel and Akilan, Asma and Albar, Renad and Aldhalaan, Hesham and Gulab, Shamshad and Chedrawi, Aziza and Al Saud, Bandar K and Kurdi, Wesam and Makhseed, Nawal and Alqasim, Tahani and El Khashab, Heba Y and Al-Mousa, Hamoud and Alhashem, Amal and Kanaan, Imaduddin and Algoufi, Talal and Alsaleem, Khalid and Basha, Talal A and Al-Murshedi, Fathiya and Khan, Sameena and Al-Kindy, Adila and Alnemer, Maha and Al-Hajjar, Sami and Alyamani, Suad and Aldhekri, Hasan and Al-Mehaidib, Ali and Arnaout, Rand and Dabbagh, Omar and Shagrani, Mohammad and Broering, Dieter and Tulbah, Maha and Alqassmi, Amal and Almugbel, Maisoon and AlQuaiz, Mohammed and Alsaman, Abdulaziz and Al-Thihli, Khalid and Sulaiman, Raashda A and Al-Dekhail, Wajeeh and Alsaegh, Abeer and Bashiri, Fahad A and Qari, Alya and Alhomadi, Suzan and Alkuraya, Hisham and Alsebayel, Mohammed and Hamad, Muddathir H and Szonyi, Laszlo and Abaalkhail, Faisal and Al-Mayouf, Sulaiman M and Almojalli, Hamad and Alqadi, Khalid S and Elsiesy, Hussien and Shuaib, Taghreed M and Seidahmed, Mohammed Zain and Abosoudah, Ibraheem and Akleh, Hana and AlGhonaium, Abdulaziz and Alkharfy, Turki M and Al Mutairi, Fuad and Eyaid, Wafa and Alshanbary, Abdullah and Sheikh, Farrukh R and Alsohaibani, Fahad I and Alsonbul, Abdullah and Al Tala, Saeed and Balkhy, Soher and Bassiouni, Randa and Alenizi, Ahmed S and Hussein, Maged H and Hassan, Saeed and Khalil, Mohamed and Tabarki, Brahim and Alshahwan, Saad and Oshi, Amira and Sabr, Yasser and Alsaadoun, Saad and Salih, Mustafa A and Mohamed, Sarar and Sultana, Habiba and Tamim, Abdullah and El-Haj, Moayad and Alshahrani, Saif and Bubshait, Dalal K and Alfadhel, Majid and ...
Human Genetics, ISSN 0340-6717, 8/2017, Volume 136, Issue 8, pp. 921 - 939
Journal Article
Genetics in Medicine, ISSN 1098-3600, 2018, Volume 21, Issue 5, pp. 1164 - 1172
Purpose: Genetic testing in pediatric cholestasis can be very informative but genetic causes have not been fully characterized. Methods: Exome sequencing and... 
cholestasis | GGT | hepatocytes | polarity | LOCALIZATION | MEMBRANE | HEARING | FURROW | GENETICS & HEREDITY | GENERATION | MICE | MUTATIONS | PROTEINS | CELL | Gallbladder diseases | Pediatrics | Liver diseases | Intellectual disabilities | Bile
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 02/2015, Volume 125, Issue 2, pp. 636 - 651
Cornelia de Lange syndrome (CdLS) is a genetically heterogeneous disorder that presents with extensive phenotypic variability, including facial dysmorphism,... 
SISTER-CHROMATID COHESION | INDIVIDUALS | MEDICINE, RESEARCH & EXPERIMENTAL | HYPERTRICHOSIS-CUBITI | VARIANTS | GENETIC-HETEROGENEITY | ACTIVATOR PROTEIN | MUTATIONS | IDENTIFICATION | HUMAN HOMOLOG | NIPBL REARRANGEMENTS | Myeloid-Lymphoid Leukemia Protein - biosynthesis | Histone Deacetylases - biosynthesis | Chondroitin Sulfate Proteoglycans - genetics | Humans | Transcriptome | Child, Preschool | Exonucleases | Infant | Male | Gene Expression Profiling | Exome | De Lange Syndrome - metabolism | Chromosomal Proteins, Non-Histone - biosynthesis | Cell Cycle Proteins - genetics | Adult | Chondroitin Sulfate Proteoglycans - biosynthesis | Child | De Lange Syndrome - genetics | Genome-Wide Association Study | Histone Deacetylases - genetics | Histone-Lysine N-Methyltransferase | Gene Expression Regulation | Repressor Proteins - genetics | Cell Cycle Proteins - biosynthesis | Codon, Nonsense | Chromosomal Proteins, Non-Histone - genetics | Proteins - genetics | Phenotype | Proteins - metabolism | Repressor Proteins - biosynthesis | Myeloid-Lymphoid Leukemia Protein - genetics | Adolescent | Heterozygote | De Lange Syndrome - pathology | De Lange syndrome | Gene mutations | Exome sequencing | Genetic research | Development and progression | Genetic transcription | Research | Diagnosis | Identification and classification | Methods | Proteins | Studies | Genotype & phenotype | Genomics | Zebrafish | Genomes | Mutation | Chromosomes | Index Medicus | Abridged Index Medicus
Journal Article
No results were found for your search.

Cannot display more than 1000 results, please narrow the terms of your search.