Alkuraya, H.: search on Z-Library

The world's largest scientific articles store. 70,000,000+ articles for free.

1

High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders

Yavarna, Tarunashree, Al-Dewik, Nader, Al-Mureikhi, Mariam, Ali, Rehab, Al-Mesaifri, Fatma, Mahmoud, Laila, Shahbeck, Noora, Lakhani, Shenela, AlMulla, Mariam, Nawaz, Zafar, Vitazka, Patrik, Alkuraya,

Journal:

Year:

2015

Language:

english

File:

PDF, 537 KB

english, 2015

2

WDR45B -related intellectual disability, spastic quadriplegia, epilepsy, and cerebral hypoplasia: a consistent neurodevelopmental syndrome

Suleiman, Jehan, Allingham-Hawkins, Diane, Hashem, Mais, Shamseddin, Hanan, Alkuraya, Fowzan S., El-Hattab, Ayman W.

Journal:

Clinical Genetics

Year:

2017

Language:

english

File:

PDF, 1.20 MB

english, 2017

3

WNT1 mutation with recessive osteogenesis imperfecta and profound neurological phenotype

Faqeih, E., Shaheen, R., Alkuraya, F. S.

Journal:

Journal of Medical Genetics

Year:

2013

Language:

english

File:

PDF, 159 KB

english, 2013

4

The RPGRIP1-related retinal phenotype in children

Khan, A. O., Abu-Safieh, L., Eisenberger, T., Bolz, H. J., Alkuraya, F. S.

Journal:

British Journal of Ophthalmology

Year:

2013

Language:

english

File:

PDF, 159 KB

english, 2013

5

Genetic heterogeneity and evolutionary history of high-grade ovarian carcinoma and matched distant metastases

Masoodi, Tariq, Siraj, Sarah, Siraj, Abdul K., Azam, Saud, Qadri, Zeeshan, Parvathareddy, Sandeep K., Tulbah, Asma, Al-Dayel, Fouad, AlHusaini, Hamed, AlOmar, Osama, Al-Badawi, Ismail A., Alkuraya, Fo

Journal:

British Journal of Cancer

Year:

2020

Language:

english

File:

PDF, 1.66 MB

english, 2020

6

NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism

Guo, Hui, Zhang, Qiumeng, Dai, Rujia, Yu, Bin, Hoekzema, Kendra, Tan, Jieqiong, Tan, Senwei, Jia, Xiangbin, Chung, Wendy K., Hernan, Rebecca, Alkuraya, Fowzan S., Alsulaiman, Ahood, Al-Muhaizea, Moham

Journal:

The American Journal of Human Genetics

Year:

2020

File:

PDF, 625 KB

2020

7

Index of Suspicion

Colianni, S., Ping, J., Fischer, P. R., Freese, D., Chan, K., Alkuraya, F. S.

Journal:

Pediatrics in Review

Year:

2004

Language:

english

File:

PDF, 601 KB

english, 2004

8

A familial PLCB4 mutation causing auriculocondylar syndrome 2 with variable severity

Nabil, Amira, El Shafei, Sahar, El Shakankiri, Nihal M., Habib, Ahmed, Morsy, Heba, Maddirevula, Sateesh, Alkuraya, Fowzan S.

Journal:

European Journal of Medical Genetics

Year:

2020

File:

PDF, 737 KB

2020

9

A Case with Purine Nucleoside Phosphorylase Deficiency Suffering from Late-Onset Systemic Lupus Erythematosus and Lymphoma

Al-Saud, Bandar, Al Alawi, Zainab, Hussain, Faisal Bin, Hershfield, Michael, Alkuraya, Fowzan S., Al-Mayouf, Sulaiman M.

Journal:

Journal of Clinical Immunology

Year:

2020

File:

PDF, 677 KB

2020

10

The natural history of infantile neuroaxonal dystrophy

Altuame, Fadie D., Foskett, Gretchen, Atwal, Paldeep S., Endemann, Sarah, Midei, Mark, Milner, Peter, Salih, Mustafa A., Hamad, Muddathir, Al-Muhaizea, Mohammad, Hashem, Mais, Alkuraya, Fowzan S.

Journal:

Orphanet Journal of Rare Diseases

Year:

2020

File:

PDF, 993 KB

2020

11

Mutations in Known Disease Genes Account for the Majority of Autosomal Recessive Retinal Dystrophies

Patel, Nisha, Alkuraya, Hisham, Alzahrani, Shahad Sharaf, Nowilaty, Sawsan R., Seidahmed, Mohammed Zain, Alhomedan, Amal, Ben-Omran, Tawfeg, Ghazi, Nicola G., Al-Aqeel, Aida, Al-Owain, Mohammed, Alzai

Journal:

Clinical Genetics

Year:

2018

Language:

english

File:

PDF, 1.11 MB

english, 2018

12

A null mutation in TNIK defines a novel locus for intellectual disability

Anazi, Shams, Shamseldin, Hanan E., AlNaqeb, Dhekra, Abouelhoda, Mohamed, Monies, Dorota, Salih, Mustafa A., Al-Rubeaan, Khalid, Alkuraya, Fowzan S.

Journal:

Year:

2016

Language:

english

File:

PDF, 1.40 MB

english, 2016

13

Survey of disorders of sex development in a large cohort of patients with diverse Mendelian phenotypes

Abualsaud, Dalia, Hashem, Mais, AlHashem, Amal, Alkuraya, Fowzan S.

Journal:

American Journal of Medical Genetics Part A

Year:

2020

File:

PDF, 1.93 MB

2020

14

Phenotype variability of infantile-onset multisystem neurologic, endocrine, and pancreatic disease IMNEPD

Picker-Minh, Sylvie, Mignot, Cyril, Doummar, Diane, Hashem, Mais, Faqeih, Eissa, Josset, Patrice, Dubern, Béatrice, Alkuraya, Fowzan S., Kraemer, Nadine, Kaindl, Angela M.

Journal:

Orphanet Journal of Rare Diseases

Year:

2016

Language:

english

File:

PDF, 3.28 MB

english, 2016

15

Mutations of PTPN23 in developmental and epileptic encephalopathy

Sowada, Nadine, Hashem, Mais Omar, Yilmaz, Rüstem, Hamad, Muddathir, Kakar, Naseebullah, Thiele, Holger, Arold, Stefan T., Bode, Harald, Alkuraya, Fowzan S., Borck, Guntram

Journal:

Year:

2017

Language:

english

File:

PDF, 964 KB

english, 2017

16

Variable phenotypic expression of COG6 mutations

Alkuraya, F. S., Shaheen, R.

Journal:

Journal of Medical Genetics

Year:

2014

Language:

english

File:

PDF, 600 KB

english, 2014

17

Smith-Lemli-Opitz syndrome in trisomy 13: How does the mix work?

Fowzan S. Alkuraya, Jonathan Picker, Mira B. Irons, Virginia E. Kimonis

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Year:

2005

Language:

english

File:

PDF, 159 KB

english, 2005

18

Identification of three novel ECEL1 mutations in three families with distal arthrogryposis type 5D

Shaheen, R., Al-Owain, M., Khan, A.O., Zaki, M.S., Hossni, H.A.A., Al-Tassan, R., Eyaid, W., Alkuraya, F.S.

Journal:

Clinical Genetics

Year:

2014

Language:

english

File:

PDF, 784 KB

english, 2014

19

A novel APC mutation defines a second locus for Cenani-Lenz syndrome

Patel, N., Faqeih, E., Anazi, S., Alfawareh, M., Wakil, S. M., Colak, D., Alkuraya, F. S.

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 3.47 MB

english, 2015

20

Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden

Abouelhoda, Mohamed, Sobahy, Turki, El-Kalioby, Mohamed, Patel, Nisha, Shamseldin, Hanan, Monies, Dorota, Al-Tassan, Nada, Ramzan, Khushnooda, Imtiaz, Faiqa, Shaheen, Ranad, Alkuraya, Fowzan S.

Journal:

Genetics in Medicine

Year:

2016

Language:

english

File:

PDF, 596 KB

english, 2016

21

Overlap between CHARGE and Kabuki syndromes: More than an interesting clinical observation?

Patel, Nisha, Alkuraya, Fowzan S.

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 488 KB

english, 2015

22

Allelic heterogeneity in inbred populations: The Saudi experience with Alström syndrome as an illustrative example

Mohamed A. Aldahmesh, Leen Abu-Safieh, Arif O. Khan, Zuhair N. Al-Hassnan, Ranad Shaheen, Mohammed Rajab, Dorota Monies, Brian F. Meyer, Fowzan S. Alkuraya

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 204 KB

english, 2009

23

FREM1 Mutations Cause Bifid Nose, Renal Agenesis, and Anorectal Malformations Syndrome

Anas M. Alazami, Ranad Shaheen, Fatema Alzahrani, Katie Snape, Anand Saggar, Bernd Brinkmann, Prashant Bavi, Lihadh I. Al-Gazali, Fowzan S. Alkuraya

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 518 KB

english, 2009

24

The distinct ophthalmic phenotype of Knobloch syndrome in children

Khan, A. O., Aldahmesh, M. A., Mohamed, J. Y., Al-Mesfer, S., Alkuraya, F. S.

Journal:

British Journal of Ophthalmology

Year:

2012

Language:

english

File:

PDF, 600 KB

english, 2012

25

Study of Mendelian forms of Crohn's disease in Saudi Arabia reveals novel risk loci and alleles

Patel, N., El Mouzan, M. I., Al-Mayouf, S. M., Adly, N., Mohamed, J. Y., Al Mofarreh, M. A., Ibrahim, N., Xiong, Y., Zhao, Q., Al-Saleem, K. A., Alkuraya, F. S.

Journal:

Year:

2014

Language:

english

File:

PDF, 980 KB

english, 2014

26

Corneal Decompensation in Recessive Cornea Plana

Khan, Arif O., Aldahmesh, Mohammed A., Al-Gehedan, Saeed, Meyer, Brain F., Alkuraya, Fowzan S.

Journal:

Ophthalmic Genetics

Year:

2009

Language:

english

File:

PDF, 446 KB

english, 2009

27

Determining the genome-wide kinship coefficient seems unhelpful in distinguishing consanguineous couples with a high versus low risk for adverse reproductive outcome

Kelmemi, W., Teeuw, M. E., Bochdanovits, Z., Ouburg, S., Jonker, M. A., Alkuraya, F., Hashem, M., Kayserili, H., van Haeringen, A., Sheridan, E., Masri, A., Cobben, J. M., Rizzu, P., Kostense, P. J.,

Journal:

BMC Medical Genetics

Year:

2015

Language:

english

File:

PDF, 768 KB

english, 2015

28

Exome-based case–control association study using extreme phenotype design reveals novel candidates with protective effect in diabetic retinopathy

Shtir, Corina, Aldahmesh, Mohammed A., Al-Dahmash, Saad, Abboud, Emad, Alkuraya, Hisham, Abouammoh, Marwan A., Nowailaty, Sawsan R., Al-Thubaiti, Ghazai, Naim, E. A., ALYounes, B., Binhumaid, F. S., A

Journal:

Year:

2016

Language:

english

File:

PDF, 558 KB

english, 2016

29

Discovery of mutations for Mendelian disorders

Alkuraya, Fowzan S.

Journal:

Year:

2016

Language:

english

File:

PDF, 683 KB

english, 2016

30

Natural human knockouts and the era of genotype to phenotype

Alkuraya, Fowzan S

Journal:

Genome Medicine

Year:

2015

Language:

english

File:

PDF, 316 KB

english, 2015

31

KDF1, encoding keratinocyte differentiation factor 1, is mutated in a multigenerational family with ectodermal dysplasia

Shamseldin, Hanan E., Khalifa, Ola, Binamer, Yousef M., Almutawa, Abdulmonem, Arold, Stefan T., Zaidan, Hamad, Alkuraya, Fowzan S.

Journal:

Year:

2017

Language:

english

File:

PDF, 1.11 MB

english, 2017

32

Formation of tRNA wobble inosine in humans is disrupted by a millennia-old mutation causing intellectual disability

Ramos, Jillian, Han, Lu, Li, Yan, Hagelskamp, Felix, Kellner, Stefanie M., Alkuraya, Fowzan S., Phizicky, Eric M., Fu, Dragony

Journal:

Molecular and Cellular Biology

Year:

2019

Language:

english

File:

PDF, 2.81 MB

english, 2019

33

3M Syndrome: An Easily Recognizable yet Underdiagnosed Cause of Proportionate Short Stature

Mohammed S. Al-Dosari, Muneera Al-Shammari, Ranad Shaheen, Eissa Faqeih, Mohammed A. AlGhofely, Ahmad Boukai, Fowzan S. Alkuraya

Journal:

The Journal of Pediatrics

Year:

2012

Language:

english

File:

PDF, 1.21 MB

english, 2012

34

Genomic analysis of pediatric cataract in Saudi Arabia reveals novel candidate disease genes

Aldahmesh, Mohammed A, Khan, Arif O, Mohamed, Jawahir Y, Hijazi, Hadia, Al-Owain, Mohammed, Alswaid, Abdulrahman, Alkuraya, Fowzan S

Journal:

Genetics in Medicine

Year:

2012

Language:

english

File:

PDF, 525 KB

english, 2012

35

HomozygousKCNMA1mutation as a cause of cerebellar atrophy, developmental delay and seizures

Tabarki, Brahim, AlMajhad, Nabil, AlHashem, Amal, Shaheen, Ranad, Alkuraya, Fowzan S.

Journal:

Year:

2016

Language:

english

File:

PDF, 616 KB

english, 2016

36

Publisher Correction: Deletion of DDB1- and CUL4- associated factor-17 (Dcaf17) gene causes spermatogenesis defects and male infertility in mice

Ali, Asmaa, Mistry, Bhavesh V., Ahmed, Hala A., Abdulla, Razan, Amer, Hassan A., Prince, Abdelbary, Alazami, Anas M., Alkuraya, Fowzan S., Assiri, Abdullah

Journal:

Scientific Reports

Year:

2018

File:

PDF, 664 KB

2018

37

A de novo TBX3 mutation presenting as dorsalization of the little fingers: A forme fruste phenotype of ulnar-mammary syndrome

Al-Qattan, Mohammad M., Maddirevula, Sateesh, Alkuraya, Fowzan S.

Journal:

European Journal of Medical Genetics

Year:

2019

Language:

english

File:

PDF, 771 KB

english, 2019

38

GM2 gangliosidosis in Saudi Arabia: Multiple mutations and considerations for future carrier screening

Namik Kaya, Mohammad Al- Owain, Nada AbuDheim, Jawaher Al- Zahrani, Dilek Colak, Moeen Al- Sayed, Aysel Milanlioglu, Pinar T. Ozand, Fowzan S. Alkuraya

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 90 KB

english, 2011

39

A nullimorphicERLIN2mutation defines a complicated hereditary spastic paraplegia locus (SPG18)

Anas M. Alazami, Nouran Adly, Hisham Al Dhalaan, Fowzan S. Alkuraya

Journal:

Year:

2011

Language:

english

File:

PDF, 286 KB

english, 2011

40

FKBP10 and Bruck Syndrome: Phenotypic Heterogeneity or Call for Reclassification?

Ranad Shaheen, Mohammed Al-Owain, Nadia Sakati, Zayed S. Alzayed, Fowzan S. Alkuraya

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 230 KB

english, 2010

41

Human Mutations in NDE1 Cause Extreme Microcephaly with Lissencephaly

Fowzan S. Alkuraya, Xuyu Cai, Carina Emery, Ganeshwaran H. Mochida, Mohammed S. Al-Dosari, Jillian M. Felie, R. Sean Hill, Brenda J. Barry, Jennifer N. Partlow, Generoso G. Gascon, Amal Kentab, Mohamm

Journal:

The American Journal of Human Genetics

Year:

2011

File:

PDF, 25 KB

2011

42

Phenotype–genotype correlation in clinically diagnosed recessive cornea plana

Arif O. Khan, Mohammed A. Aldahmesh, Brian F. Meyer, Fowzan S. Alkuraya

Journal:

Journal of American Association for Pediatric Ophthalmology and Strabismus

Year:

2012

Language:

english

File:

PDF, 41 KB

english, 2012

43

Novel recessive BFSP2 and PITX3 mutations: Insights into mutational mechanisms from consanguineous populations

Aldahmesh, Mohammed A., Khan, Arif O., Mohamed, Jawahir, Alkuraya, Fowzan S.

Journal:

Genetics in Medicine

Year:

2011

Language:

english

File:

PDF, 737 KB

english, 2011

44

NPHP4 mutation is linked to cerebello-oculo-renal syndrome and male infertility

Alazami, A.M., Alshammari, M.J., Baig, M., Salih, M.A., Hassan, H.H., Alkuraya, F.S.

Journal:

Clinical Genetics

Year:

2014

Language:

english

File:

PDF, 699 KB

english, 2014

45

Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes

Shamseldin, H. E., Alshammari, M., Al-Sheddi, T., Salih, M. A., Alkhalidi, H., Kentab, A., Repetto, G. M., Hashem, M., Alkuraya, F. S.

Journal:

Journal of Medical Genetics

Year:

2012

Language:

english

File:

PDF, 1.16 MB

english, 2012

46

Identification of ADAMTS18 as a gene mutated in Knobloch syndrome

Aldahmesh, M. A., Khan, A. O., Mohamed, J. Y., Alkuraya, H., Ahmed, H., Bobis, S., Al-Mesfer, S., Alkuraya, F. S.

Journal:

Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 661 KB

english, 2011

47

FBXO32, encoding a member of the SCF complex, is mutated in dilated cardiomyopathy

Al-Yacoub, Nadya, Shaheen, Ranad, Awad, Salma Mahmoud, Kunhi, Muhammad, Dzimiri, Nduna, Nguyen, Henry C., Xiong, Yong, Al-Buraiki, Jehad, Al-Habeeb, Waleed, Alkuraya, Fowzan S., Poizat, Coralie

Journal:

Year:

2016

Language:

english

File:

PDF, 2.44 MB

english, 2016

48

A lethal phenotype associated with tissue plasminogen deficiency in humans

Shamseldin, Hanan E., Aldeeri, Abdulrahman, Babay, Zainab, Alsultan, Abdulrahman, Hashem, Mais, Alkuraya, Fowzan S.

Journal:

Year:

2016

Language:

english

File:

PDF, 1.57 MB

english, 2016

49

MED12 is recurrently mutated in Middle Eastern colorectal cancer

Siraj, Abdul K, Masoodi, Tariq, Bu, Rong, Pratheeshkumar, Poyil, Al-Sanea, Nasser, Ashari, Luai H, Abduljabbar, Alaa, Alhomoud, Samar, Al-Dayel, Fouad, Alkuraya, Fowzan S, Al-Kuraya, Khawla S

Journal:

Year:

2017

Language:

english

File:

PDF, 1.68 MB

english, 2017

50

CNP deficiency causes severe hypomyelinating leukodystrophy in humans

Al-Abdi, Lama, Al Murshedi, Fathiya, Elmanzalawy, Alaa, Al Habsi, Asila, Helaby, Rana, Ganesh, Anuradha, Ibrahim, Niema, Patel, Nisha, Alkuraya, Fowzan S.

Journal:

Year:

2020

File:

PDF, 1.76 MB

2020

To build up a library is to create a life. It’s never just a random collection of books.

— Carlos María Domínguez

Official channel

Z-Library Desktop Launcher

Z-Library Since 2009 support@1delivery.pm

EnglishРусскийEspañolItalianoελληνικάاللغة العربيةBahasa IndonesiaBahasa Malaysiaहिन्दीDeutschFrançaisPortuguêsУкраїнськаPolski中文繁體中文日本語Tiếng ViệtAzərbaycan DiliՀայոց լեզուภาษาไทยTürk Diliქართველიবাংলাپښتوతెలుగుاردو한국어SrpskiБългарски