X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (39) 39
humans (37) 37
genetics & heredity (30) 30
mutation (29) 29
male (27) 27
female (25) 25
mutations (20) 20
genetic aspects (18) 18
pedigree (18) 18
phenotype (18) 18
research (15) 15
child (14) 14
adult (12) 12
exome (12) 12
alleles (11) 11
consanguinity (10) 10
diagnosis (10) 10
genomics (10) 10
disease (9) 9
genetics (9) 9
homozygote (9) 9
saudi arabia (9) 9
adolescent (8) 8
child, preschool (8) 8
biomedicine (7) 7
disorders (7) 7
dna mutational analysis (7) 7
gene function (7) 7
gene mutations (7) 7
genetic predisposition to disease (7) 7
genomes (7) 7
human genetics (7) 7
identification (7) 7
metabolic diseases (7) 7
molecular medicine (7) 7
phenotypes (7) 7
sequence analysis, dna (7) 7
analysis (6) 6
animals (6) 6
genes (6) 6
genotype (6) 6
high-throughput nucleotide sequencing (6) 6
medicine (6) 6
protein (6) 6
genetic association studies (5) 5
genetic heterogeneity (5) 5
genetic research (5) 5
intellectual disability (5) 5
medical colleges (5) 5
mice (5) 5
polymorphism, single nucleotide (5) 5
risk factors (5) 5
base sequence (4) 4
cilia (4) 4
cilia - genetics (4) 4
defects (4) 4
epilepsy (4) 4
family (4) 4
gene (4) 4
genotype & phenotype (4) 4
haplotypes (4) 4
mutation - genetics (4) 4
physiological aspects (4) 4
retina - pathology (4) 4
usage (4) 4
variants (4) 4
young adult (4) 4
abridged index medicus (3) 3
article (3) 3
autozygome (3) 3
biology (3) 3
biotechnology & applied microbiology (3) 3
brain (3) 3
brain - metabolism (3) 3
case report (3) 3
cerebellum - pathology (3) 3
chromosome mapping (3) 3
cilia - pathology (3) 3
clinical neurology (3) 3
codon, nonsense (3) 3
complex (3) 3
development and progression (3) 3
experience (3) 3
expression (3) 3
eye abnormalities - genetics (3) 3
family health (3) 3
genetic disorders (3) 3
genetic testing (3) 3
genetic variation (3) 3
genome-wide association study (3) 3
heredity (3) 3
immunodeficiency (3) 3
immunology (3) 3
infant (3) 3
infant, newborn (3) 3
intellectual disabilities (3) 3
joubert syndrome (3) 3
kidney diseases, cystic - genetics (3) 3
medical genetics (3) 3
medical research (3) 3
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Cell Reports, ISSN 2211-1247, 01/2015, Volume 10, Issue 2, pp. 148 - 161
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 137, Issue 6, pp. 1780 - 1787
Journal Article
by Horikoshi, Momoko and Yaghootkar, Hanieh and Mook-Kanamori, Dennis O and Sovio, Ulla and Taal, H. Rob and Hennig, Branwen J and Bradfield, Jonathan P and St Pourcain, Beate and Evans, David M and Charoen, Pimphen and Kaakinen, Marika and Cousminer, Diana L and Lehtimaki, Terho and Kreiner-Moller, Eskil and Warrington, Nicole M and Bustamante, Mariona and Feenstra, Bjarke and Berry, Diane J and Thiering, Elisabeth and Pfab, Thiemo and Barton, Sheila J and Shields, Beverley M and Kerkhof, Marjan and van Leeuwen, Elisa and Fulford, Anthony J and Kutalik, Zoltan and Zhao, Jing Hua and den Hoed, Marcel and Mahajan, Anubha and Lindi, Virpi and Goh, Liang-Kee and Hottenga, Jouke-Jan and Wu, Ying and Raitakari, Olli T and Harder, Marie N and Meirhaeghe, Aline and Ntalla, Ioanna and Salem, Rany M and Jameson, Karen A and Zhou, Kaixin and Monies, Dorota M and Lagou, Vasiliki and Kirin, Mirna and Heikkinen, Jani and Adair, Linda S and Alkuraya, Fowzan S and Al-Odaib, Ali and Amouyel, Philippe and Andersson, Ehm Astrid and Bennett, Amanda J and Blakemore, Alexana I. F and Buxton, Jessica L and Dallongeville, Jean and Das, Shikta and de Geus, Eco J. C and Estivill, Xavier and Flexeder, Claudia and Froguel, Philippe and Geller, Frank and Godfrey, Keith M and Gottrand, Frederic and Groves, Christopher J and Hansen, Torben and Hirschhorn, Joel N and Hofman, Albert and Hollegaard, Mads V and Hougaard, David M and Hyppoenen, Elina and Inskip, Hazel M and Isaacs, Aaron and Jorgensen, Torben and Kanaka-Gantenbein, Christina and Kemp, John P and Kiess, Wieland and Kilpelainen, Tuomas O and Klopp, Norman and Knight, Bridget A and Kuzawa, Christopher W and McMahon, George and Newnham, John P and Niinikoski, Harri and Oostra, Ben A and Pedersen, Louise and Postma, Dirkje S and Ring, Susan M and Rivadeneira, Fernando and Robertson, Neil R and Sebert, Sylvain and Simell, Olli and Slowinski, Torsten and Tiesler, Carla M. T and Toenjes, Anke and Vaag, Allan and Viikari, Jorma S and Vink, Jacqueline M and Vissing, Nadja Hawwa and Wareham, Nicholas J and Willemsen, Gonneke and Witte, Daniel R and Zhang, Haitao and ... and Early Growth Genetics EGG and MAGIC and Early Growth Genetics (EGG) Consortium and Meta-Analyses of Glucose- and Insulin-related traits Consortium (MAGIC) and The Meta-Analyses of Glucose- and Insulin-related traits Consortium (MAGIC)
Nature Genetics, ISSN 1061-4036, 01/2013, Volume 45, Issue 1, pp. 76 - 82
Journal Article
Case reports in genetics, ISSN 2090-6544, 2018, Volume 2018, pp. 9468049 - 5
Hereditary sensory and autonomic neuropathies (HSANs) are a clinically and genetically heterogeneous group of disorders involving various sensory and autonomic... 
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
Human Genetics, ISSN 0340-6717, 11/2017, Volume 136, Issue 11, pp. 1419 - 1429
Intellectual disability (ID) is a common morbid condition with a wide range of etiologies. The list of monogenic forms of ID has increased rapidly in recent... 
Human Genetics | Gene Function | Molecular Medicine | Biomedicine | Metabolic Diseases | SLC12A2 | PROTEIN | VARIANTS | MUTATION | DISEASE | GENETICS & HEREDITY | NKCC1 | EXCHANGE | BRAIN | INSIGHTS | Medicine, Experimental | Medical colleges | Medical research | Brain | Disease susceptibility | Genetic aspects | Gene mapping | Dimethylaniline monooxygenase (N-oxide-forming) | Intellectual disabilities | Index Medicus
Journal Article
Genetics in Medicine, ISSN 1098-3600, 03/2019, Volume 21, Issue 3, pp. 736 - 742
Journal Article
Genetics in Medicine, ISSN 1098-3600, 12/2018, Volume 20, Issue 12, pp. 1609 - 1616
Purpose: To describe our experience with a large cohort (411 patients from 288 families) of various forms of skeletal dysplasia who were molecularly... 
osteogenesis imperfecta | craniosynostosis | Toriello–Carey | Toriello-Carey | RECESSIVE OSTEOGENESIS IMPERFECTA | CLASSIFICATION | DISORDERS | CLINICAL GENOMICS | HETEROGENEITY | GENETICS | NOSOLOGY | GENETICS & HEREDITY | MUTATIONS | WNT | Index Medicus
Journal Article