X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (7) 7
humans (4) 4
female (3) 3
child, preschool (2) 2
clinical neurology (2) 2
genetic aspects (2) 2
genetics & heredity (2) 2
infant (2) 2
male (2) 2
mutation (2) 2
pediatrics (2) 2
polymerase-chain-reaction (2) 2
research (2) 2
adolescent (1) 1
adult (1) 1
amniocentesis (1) 1
analysis (1) 1
aneuploidy (1) 1
antioxidants (1) 1
array-cgh (1) 1
biomedicine (1) 1
biotechnology (1) 1
birth defects (1) 1
blotting, southern (1) 1
cardiac & cardiovascular systems (1) 1
cardiac surgery (1) 1
cardiology (1) 1
case report (1) 1
causes of (1) 1
charge (1) 1
child (1) 1
children's hospitals (1) 1
chromosomal aberrations (1) 1
chromosomal-abnormalities (1) 1
chromosome abnormalities (1) 1
chromosomes, human, pair 21 (1) 1
cohort studies (1) 1
congenital heart defects (1) 1
congenital heart disease (1) 1
consanguinity (1) 1
copy number variants (1) 1
copy number variations (1) 1
deletions (1) 1
dementia disorders (1) 1
diagnosis (1) 1
dietary therapy (1) 1
disease (1) 1
dishevelled protein (1) 1
dna mutational analysis (1) 1
dna mutational analysis - methods (1) 1
down syndrome (1) 1
down syndrome - diagnosis (1) 1
down syndrome - genetics (1) 1
dscam protein (1) 1
dscr3/gapdh (1) 1
egypt (1) 1
exome (1) 1
expanded alleles (1) 1
expression (1) 1
family (1) 1
fetal aneuploidies (1) 1
fetal medicine (1) 1
fmr1 gene (1) 1
fragile x (1) 1
fragile x mental retardation protein - genetics (1) 1
fragile x syndrome (1) 1
fragile x syndrome - genetics (1) 1
frequency (1) 1
full-mutation (1) 1
galactosemia (1) 1
gene dosage (1) 1
gene function (1) 1
gene mutations (1) 1
genetic counseling (1) 1
genetic diseases, inborn - diagnosis (1) 1
genetic diseases, inborn - epidemiology (1) 1
genetic polymorphisms (1) 1
genetic susceptibility (1) 1
genetic testing (1) 1
genetic transcription (1) 1
genetics (1) 1
genome, human (1) 1
glyceraldehyde-3-phosphate dehydrogenases - genetics (1) 1
health aspects (1) 1
heredity (1) 1
high-throughput nucleotide sequencing (1) 1
homozygote (1) 1
human genetics (1) 1
hybridization (1) 1
iduronidase - genetics (1) 1
intellectual disability (1) 1
intellectual disability - genetics (1) 1
kabuki syndromes (1) 1
males (1) 1
medical colleges (1) 1
medicine (1) 1
medicine & public health (1) 1
meeting abstracts (1) 1
melting curve analysis (1) 1
metabolic diseases (1) 1
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


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
by Shay, Jerry W and Homma, Noriko and Zhou, Ruyun and Naseer, Muhammad Imran and Chaudhary, Adeel G and Al-Qahtani, Mohammed and Hirokawa, Nobutaka and Goudarzi, Maryam and Fornace, Albert J and Baeesa, Saleh and Hussain, Deema and Bangash, Mohammed and Alghamdi, Fahad and Schulten, Hans-Juergen and Carracedo, Angel and Khan, Ishaq and Qashqari, Hanadi and Madkhali, Nawal and Saka, Mohamad and Saini, Kulvinder S and Jamal, Awatif and Al-Maghrabi, Jaudah and Abuzenadah, Adel and Chaudhary, Adeel and Al Qahtani, Mohammed and Damanhouri, Ghazi and Alkhatabi, Heba and Goodeve, Anne and Crookes, Laura and Niksic, Nikolas and Beauchamp, Nicholas and Abuzenadah, Adel M and Vaught, Jim and Budowle, Bruce and Assidi, Mourad and Buhmeida, Abdelbaset and Merdad, Leena and Kumar, Sudhir and Miura, Sayaka and Gomez, Karen and Rasool, Mahmood and Rebai, Ahmed and Karim, Sajjad and Eldin, Hend F. Nour and Abusamra, Heba and Alhathli, Elham M and Salem, Nada and Al-Qahtani, Mohammed H and Faheem, Hossam and Agarwa, Ashok and Nieschlag, Eberhard and Wistuba, Joachim and Damm, Oliver S and Beg, Mohd A and Abdel-Meguid, Taha A and Mosli, Hisham A and Bajouh, Osama S and Coskun, Serdar and Abu-Elmagd, Muhammad and Dallol, Ashraf and Hakamy, Sahar and Al-Qahtani, Wejdan and Al-Harbi, Asia and Hussain, Shireen and Ozkosem, Burak and DuBois, Rick and Messaoudi, Safia S and Dandana, Maryam T and Mahjoub, Touhami and Almawi, Wassim Y and Abdalla, S and Al-Aama, M. Nabil and Elzawahry, Asmaa and Takahashi, Tsuyoshi and Mimaki, Sachiyo and Furukawa, Eisaku and Nakatsuka, Rie and Kurosaka, Isao and Nishigaki, Takahiko and Nakamura, Hiromi and Serada, Satoshi and Naka, Tetsuji and Hirota, Seiichi and Shibata, Tatsuhiro and Tsuchihara, Katsuya and Nishida, Toshirou and Kato, Mamoru and Mehmood, Sajid and Ashraf, Naeem Mahmood and Asif, Awais and Bilal, Muhammad and Mehmood, Malik Siddique and Hussain, Aadil and Jamal, Qazi Mohammad Sajid and Siddiqui, Mughees Uddin and Alzohairy, Mohammad A and Al Karaawi, Mohammad A and Nedjadi, Taoufik and Al-Khattabi, Heba and Al-Ammari, Adel and ...
BMC genomics, ISSN 1471-2164, 07/2016, Volume 17 Suppl 6, Issue S6, p. 487
Journal Article
Neurosciences (Riyadh, Saudi Arabia), ISSN 1319-6138, 10/2018, Volume 23, Issue 4, pp. 347 - 350
Objectives: To identify genetic variation involved in primary microcephaly. Methods: In present study we identified 4 generation Saudi family showing primary... 
CLINICAL NEUROLOGY
Journal Article
Journal Article
GENETIC TESTING AND MOLECULAR BIOMARKERS, ISSN 1945-0265, 12/2009, Volume 13, Issue 6, pp. 761 - 764
Mucopolysaccharidosis type I (MPS I) is an autosomal recessive disorder that results from a deficiency in alpha-L-iduronidase (IDUA), which is involved in the... 
MUCOPOLYSACCHARIDOSIS TYPE-I | EXPRESSION | FREQUENCY | GENETICS & HEREDITY | DNA Mutational Analysis | Pedigree | Humans | Egypt | Child, Preschool | Female | Infant | Mucopolysaccharidosis I - genetics | Mutation | Iduronidase - genetics | Polymorphism, Genetic
Journal Article
Journal of Medical Sciences, ISSN 1682-4474, 05/2006, Volume 6, Issue 3, pp. 452 - 457
Journal Article
2013, International Criminal Law Series, Volume 5, 32
Book Chapter
No results were found for your search.

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