Ahmed Alfares : rechercher sur Z-Library

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1

Fraternal twins with Aarskog–Scott syndrome due to maternal germline mosaicism

Laura Pilozzi-Edmonds, Thomas A. Maher, Raveen K. Basran, Aubrey Milunsky, Khalid Al-Thihli, Nancy E. Braverman, Ahmed Alfares

Journal:

American Journal of Medical Genetics Part A

Année:

2011

Langue:

english

Fichier:

PDF, 586 KB

english, 2011

2

Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity

Alfares, Ahmed A., Kelly, Melissa A., McDermott, Gregory, Funke, Birgit H., Lebo, Matthew S., Baxter, Samantha B., Shen, Jun, McLaughlin, Heather M., Clark, Eugene H., Babb, Larry J., Cox, Stephanie W

Journal:

Genetics in Medicine

Année:

2015

Langue:

english

Fichier:

PDF, 901 KB

english, 2015

3

A supply chain model with vendor-managed inventory, consignment, and quality inspection errors

Alfares, Hesham K., Attia, Ahmed M.

Journal:

International Journal of Production Research

Année:

2017

Langue:

english

Fichier:

PDF, 1.35 MB

english, 2017

4

Whole-genome sequencing offers additional but limited clinical utility compared with reanalysis of whole-exome sequencing

Alfares, Ahmed, Aloraini, Taghrid, subaie, Lamia Al, Alissa, Abdulelah, Qudsi, Ahmed Al, Alahmad, Ahmed, Mutairi, Fuad Al, Alswaid, Abdulrahman, Alothaim, Ali, Eyaid, Wafaa, Albalwi, Mohammed, Alturki

Journal:

Genetics in Medicine

Année:

2018

Langue:

english

Fichier:

PDF, 434 KB

english, 2018

5

Choice of Peripheral Venoarterial Extra-Corporeal Membrane Oxygenation Cannulation Site in Patients Above 15 kilograms

Kurkluoglu, Mustafa, Hynes, Conor F., Alfares, Fahad A., El-Sayed Ahmed, Magdy M., Peer, Syed M., Zurakowski, David, Jonas, Richard A., Nath, Dilip S.

Journal:

Journal of Cardiac Surgery

Année:

2015

Langue:

english

Fichier:

PDF, 59 KB

english, 2015

6

Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia

Alfadhel, Majid, Benmeakel, Mohammed, Hossain, Mohammad Arif, Al Mutairi, Fuad, Al Othaim, Ali, Alfares, Ahmed A., Al Balwi, Mohammed, Alzaben, Abdullah, Eyaid, Wafaa

Journal:

Orphanet Journal of Rare Diseases

Année:

2016

Langue:

english

Fichier:

PDF, 410 KB

english, 2016

7

Inventory and Pricing Model with Price-Dependent Demand, Time-Varying Holding Cost, and Quantity Discounts

Alfares, Hesham K., Ghaithan, Ahmed M.

Journal:

Computers & Industrial Engineering

Année:

2016

Langue:

english

Fichier:

PDF, 692 KB

english, 2016

8

[IEEE 2014 IEEE Energy Conversion Congress and Exposition (ECCE) - Pittsburgh, PA, USA (2014.9.14-2014.9.18)] 2014 IEEE Energy Conversion Congress and Exposition (ECCE) - Analysis and assessment of microgrid stability using the Nu gap approach

Alfares, Abdulgafor, Sayed-Ahmed, Ahmed

Année:

2014

Langue:

english

Fichier:

PDF, 737 KB

english, 2014

9

Timing of Gastrostomy Tube Feeding in Three-stage Palliation of Single-ventricle Physiology

El-Sayed Ahmed, Magdy M., Alfares, Fahad A., Hynes, Conor F., Ramakrishnan, Karthik, Louis, Clouden, Dou, Cookie, Costello, John P., Zurakowski, David, Jonas, Richard A., Nath, Dilip S.

Journal:

Congenital Heart Disease

Année:

2016

Langue:

english

Fichier:

PDF, 70 KB

english, 2016

10

Diabetic ketoacidosis in vanishing white matter

Alamri, Hannadi, Al Mutairi, Fuad, Alothman, Johara, Alothaim, Ali, Alfadhel, Majid, Alfares, Ahmed

Journal:

Clinical Case Reports

Année:

2016

Langue:

english

Fichier:

PDF, 787 KB

english, 2016

11

Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans

Alfadhel, Majid, Nashabat, Marwan, Qahtani, Hanan Al, Alfares, Ahmed, Mutairi, Fuad Al, Shaalan, Hesham Al, Douglas, Ganka V., Wierenga, Klaas, Juusola, Jane, Alrifai, Muhammad Talal, Arold, Stefan T.

Journal:

Année:

2016

Langue:

english

Fichier:

PDF, 718 KB

english, 2016

12

A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield

Alfares, Ahmed, Alfadhel, Majid, Wani, Tariq, Alsahli, Saud, Alluhaydan, Iram, Al Mutairi, Fuad, Alothaim, Ali, Albalwi, Mohammed, Al subaie, Lamia, Alturki, Saeed, Al-Twaijri, Waleed, Alrifai, Muhamm

Journal:

Molecular Genetics and Metabolism

Année:

2017

Langue:

english

Fichier:

PDF, 536 KB

english, 2017

13

Distinct Levels of Reactive Oxygen Species Coordinate Metabolic Activity with Beta-cell Mass Plasticity

Ahmed Alfar, Ezzaldin, Kirova, Dilyana, Konantz, Judith, Birke, Sarah, Mansfeld, Jörg, Ninov, Nikolay

Journal:

Scientific Reports

Année:

2017

Langue:

english

Fichier:

PDF, 2.21 MB

english, 2017

14

Peeling skin syndrome associated with novel variant in FLG2 gene

Alfares, Ahmed, Al-Khenaizan, Sultan, Al Mutairi, Fuad

Journal:

American Journal of Medical Genetics Part A

Année:

2017

Langue:

english

Fichier:

PDF, 431 KB

english, 2017

15

A new association between CDK5RAP2 microcephaly and congenital cataracts

Alfares, Ahmed, Alhufayti, Ibtihal, Alsubaie, Lamia, Alowain, Mohammed, Almass, Rawan, Alfadhel, Majid, Kaya, Namik, Eyaid, Wafaa

Journal:

Annals of Human Genetics

Année:

2017

Langue:

english

Fichier:

PDF, 524 KB

english, 2017

16

MicroRNAs in cardiomyocyte differentiation and maturation

Alfar, Ezzaldin Ahmed, El-Armouche, Ali, Guan, Kaomei

Journal:

Cardiovascular Research

Année:

2018

Langue:

english

Fichier:

PDF, 415 KB

english, 2018

17

[IEEE 2017 IEEE International Conference on Advanced Intelligent Mechatronics (AIM) - Munich, Germany (2017.7.3-2017.7.7)] 2017 IEEE International Conference on Advanced Intelligent Mechatronics (AIM) - A magnetic bilateral tele-manipulation system using paramagnetic microparticles for micromanipulation of nonmagnetic objects

Seif, Mohamed Abou, Hassan, Amr, El-Shaer, Ahmed H., Alfar, Abdelrahman, Misra, Sarthak, Khalil, Islam S. M.

Année:

2017

Langue:

english

Fichier:

PDF, 3.58 MB

english, 2017

18

KIF16B is a candidate gene for a novel autosomal-recessive intellectual disability syndrome

Alsahli, Saud, Arold, Stefan T., Alfares, Ahmed, Alhaddad, Bader, Al Balwi, Mohammed, Kamsteeg, Erik-Jan, Al-Twaijri, Waleed, Alfadhel, Majid

Journal:

American Journal of Medical Genetics Part A

Année:

2018

Langue:

english

Fichier:

PDF, 854 KB

english, 2018

19

Renal tubular dysgenesis and microcolon, a novel association. Report of three cases

Saskin, Avi, Alfares, Ahmed, Bernard, Chantal, Blumenkrantz, Miriam, Braverman, Nancy, Gupta, Indra, Brosnihan, K. Bridget, Antignac, Corinne, Gubler, Marie Claire, Morinière, Vincent, De Bie, Isabell

Journal:

European Journal of Medical Genetics

Année:

2018

Langue:

english

Fichier:

PDF, 14.44 MB

english, 2018

20

Defective Mitochondrial Cardiolipin Remodeling Dampens HIF-1α Expression in Hypoxia

Chowdhury, Arpita, Aich, Abhishek, Jain, Gaurav, Wozny, Katharina, Lüchtenborg, Christian, Hartmann, Magnus, Bernhard, Olaf, Balleiniger, Martina, Alfar, Ezzaldin Ahmed, Zieseniss, Anke, Toischer, Kar

Journal:

Année:

2018

Langue:

english

Fichier:

PDF, 2.86 MB

english, 2018

21

EOQ and EPQ Production-Inventory Models with Variable Holding Cost: State-of-the-Art Review

Alfares, Hesham K., Ghaithan, Ahmed M.

Journal:

Arabian Journal for Science and Engineering

Année:

2018

Langue:

english

Fichier:

PDF, 612 KB

english, 2018

22

Truncating biallelic variant in DNAJA1, encoding the co-chaperone Hsp40, is associated with intellectual disability and seizures

Alsahli, Saud, Alfares, Ahmed, Guzmán-Vega, Francisco J., Arold, Stefan T., Ba-Armah, Duaa, Al Mutairi, Fuad

Journal:

Année:

2019

Langue:

english

Fichier:

PDF, 879 KB

english, 2019

23

IRAM: virus capsid database and analysis resource

Almansour, Iman, Alhagri, Mazen, Alfares, Rahaf, Alshehri, Manal, Bakhashwain, Razan, Maarouf, Ahmed

Journal:

Année:

2019

Langue:

english

Fichier:

PDF, 1.08 MB

english, 2019

24

Delta Like-1 Gene Mutation: A Novel Cause of Congenital Vertebral Malformation

Barhoumi, Tlili, Nashabat, Marwan, Alghanem, Bandar, Alhallaj, AlShaimaa, Boudjelal, Mohamed, Umair, Muhammad, Alarifi, Saud, Alfares, Ahmed, Mohrij, Saad A. Al, Alfadhel, Majid

Journal:

Frontiers in Genetics

Année:

2019

Fichier:

PDF, 2.78 MB

2019

25

IRAM: virus capsid database and analysis resource

Almansour, Iman, Alhagri, Mazen, Alfares, Rahaf, Alshehri, Manal, Bakhashwain, Razan, Maarouf, Ahmed

Journal:

Année:

2019

Fichier:

PDF, 1.08 MB

2019

26

Proteomic and Molecular Assessment of the Common Saudi Variant in ACADVL Gene Through Mesenchymal Stem Cells

Alfares, Ahmad, Alfadhel, Majid, Mujamammi, Ahmed, Alotaibi, Batoul, Albahkali, Sarah, Al Balwi, Mohammed, Benabdelkamel, Hicham, Masood, Afshan, Ali, Rizwan, Almuaysib, Amani, Al Mahri, Saeed, Mohamm

Journal:

Frontiers in Cell and Developmental Biology

Année:

2020

Langue:

english

Fichier:

PDF, 1.89 MB

english, 2020

27

MEFV c.2230G>T p.(Ala744Ser) rs61732874 previously misclassified as pathogenic variant due to lack of a population specific database

Alsubaie, Lamia, Alkhalaf, Randa, Aloraini, Taghrid, Amoudi, Manal, Swaid, Abdulrahman, Almutairi, Fuad, Alfadhel, Majid, Eyaid1, Wafaa, Sewairi, Wafaa, Alfares, Ahmed

Journal:

Annals of Human Genetics

Année:

2020

Fichier:

PDF, 283 KB

2020

28

What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations

Alfares, Ahmed, Alsubaie, Lamia, Aloraini, Taghrid, Alaskar, Aljoharah, Althagafi, Azza, Alahmad, Ahmed, Rashid, Mamoon, Alswaid, Abdulrahman, Alothaim, Ali, Eyaid, Wafaa, Ababneh, Faroug, Albalwi, Mo

Journal:

BMC Medical Genomics

Année:

2020

Fichier:

PDF, 1.02 MB

2020