Alhashem, Amal M. : rechercher sur Z-Library

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1

Genomic and phenotypic delineation of congenital microcephaly

Shaheen, Ranad, Maddirevula, Sateesh, Ewida, Nour, Alsahli, Saud, Abdel-Salam, Ghada M. H., Zaki, Maha S., Tala, Saeed Al, Alhashem, Amal, Softah, Ameen, Al-Owain, Mohammed, Alazami, Anas M., Abadel,

Journal:

Genetics in Medicine

Année:

2018

Langue:

english

Fichier:

PDF, 3.95 MB

english, 2018

2

Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities

Alrakaf, Laila, Al-Owain, Mohammed A., Busehail, Maryam, Alotaibi, Maha A., Monies, Dorota, Aldhalaan, Hesham M., Alhashem, Amal, Al-Hassnan, Zuhair N., Rahbeeni, Zuhair A., Murshedi, Fathiya Al, Ani,

Journal:

American Journal of Medical Genetics Part A

Année:

2018

Langue:

english

Fichier:

PDF, 623 KB

english, 2018

3

FARS2 deficiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance

Almannai, Mohammed, Wang, Julia, Dai, Hongzheng, El-Hattab, Ayman W., Faqeih, Eissa A., Saleh, Mohammed A., Al Asmari, Ali, AlWadei, Ali H., Aljadhai, Yaser I., AlHashem, Amal, Tabarki, Brahim M., Lin

Journal:

Molecular Genetics and Metabolism

Année:

2018

Langue:

english

Fichier:

PDF, 12.77 MB

english, 2018

4

Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome

Cozma, Claudia, Hovakimyan, Marina, Iurașcu, Marius-Ionuț, Makhseed, Nawal, Selim, Laila A., Alhashem, Amal M., Ben-Omran, Tawfeg, Mahmoud, Iman G., Al Menabawy, Nihal M., Al-Mureikhi, Mariam, Martin,

Journal:

Orphanet Journal of Rare Diseases

Année:

2019

Langue:

english

Fichier:

PDF, 1.34 MB

english, 2019

5

Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome

Cozma, Claudia, Hovakimyan, Marina, Iurașcu, Marius-Ionuț, Makhseed, Nawal, Selim, Laila A., Alhashem, Amal M., Ben-Omran, Tawfeg, Mahmoud, Iman G., Al Menabawy, Nihal M., Al-Mureikhi, Mariam, Martin,

Journal:

Orphanet Journal of Rare Diseases

Année:

2019

Fichier:

PDF, 1.34 MB

2019

6

An exome-first approach to aid in the diagnosis of primary ciliary dyskinesia

Shamseldin, Hanan E., Al Mogarri, Ibrahim, Alqwaiee, Mansour M., Alharbi, Adel S., Baqais, Khaled, AlSaadi, Muslim, AlAnzi, Talal, Alhashem, Amal, Saghier, Afaf, Ameen, Waleed, Ibrahim, Niema, Yang, J

Journal:

Année:

2020

Fichier:

PDF, 1.60 MB

2020

7

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

Année:

2020

Fichier:

PDF, 1.93 MB

2020

8

Mutations in DDX59 Implicate RNA Helicase in the Pathogenesis of Orofaciodigital Syndrome

Shamseldin, Hanan E., Rajab, Anna, Alhashem, Amal, Shaheen, Ranad, Al-Shidi, Tarfa, Alamro, Rana, Al Harassi, Salma, Alkuraya, Fowzan S.

Journal:

The American Journal of Human Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 1.33 MB

english, 2013

9

Neu-Laxova Syndrome, an Inborn Error of Serine Metabolism, Is Caused by Mutations in PHGDH

Shaheen, Ranad, Rahbeeni, Zuhair, Alhashem, Amal, Faqeih, Eissa, Zhao, Qi, Xiong, Yong, Almoisheer, Agaadir, Al-Qattan, Sarah M., Almadani, Halima A., Al-Onazi, Noufa, Al-Baqawi, Badi S., Saleh, Moham

Journal:

The American Journal of Human Genetics

Année:

2014

Langue:

english

Fichier:

PDF, 1.58 MB

english, 2014

10

Ciliary Genes TBC1D32 / C6orf170 and SCLT1 are Mutated in Patients with OFD Type IX

Adly, Nouran, Alhashem, Amal, Ammari, Amer, Alkuraya, Fowzan S.

Journal:

Année:

2014

Langue:

english

Fichier:

PDF, 1.23 MB

english, 2014

11

Distal acroosteolysis, poikiloderma and joint stiffness: a novel laminopathy?

Sewairi, Wafaa, Assiri, Abdulrahman, Patel, Nisha, Alhashem, Amal, Alkuraya, Fowzan S

Journal:

European Journal of Human Genetics

Année:

2016

Langue:

english

Fichier:

PDF, 846 KB

english, 2016

12

KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome

Sanders, Anna A. W. M., de Vrieze, Erik, Alazami, Anas M., Alzahrani, Fatema, Malarkey, Erik B., Sorusch, Nasrin, Tebbe, Lars, Kuhns, Stefanie, van Dam, Teunis J. P., Alhashem, Amal, Tabarki, Brahim,

Journal:

Année:

2015

Langue:

english

Fichier:

PDF, 4.06 MB

english, 2015

13

Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue

Alazami, Anas M., Al-Qattan, Sarah M., Faqeih, Eissa, Alhashem, Amal, Alshammari, Muneera, Alzahrani, Fatema, Al-Dosari, Mohammed S., Patel, Nisha, Alsagheir, Afaf, Binabbas, Bassam, Alzaidan, Hamad,

Journal:

Année:

2016

Langue:

english

Fichier:

PDF, 5.91 MB

english, 2016

14

Severe early-onset epileptic encephalopathy due to mutations in the KCNA2 gene: Expansion of the genotypic and phenotypic spectrum

Hundallah, Khaled, Alenizi, Asma'a, AlHashem, Amal, Tabarki, Brahim

Journal:

European Journal of Paediatric Neurology

Année:

2016

Langue:

english

Fichier:

PDF, 1.20 MB

english, 2016

15

Crisponi/CISS1 syndrome: A case series

Alhashem, Amal M., Majeed-Saidan, Muhammad Ali, Ammari, Amer N., Alrakaf, Maha S., Nojoom, Maha, Maddirevula, Sateesh, Faqeih, Eissa, Alkuraya, Fowzan S., Garne, Ester, Kurdi, Ahmad M.

Journal:

American Journal of Medical Genetics Part A

Année:

2016

Langue:

english

Fichier:

PDF, 455 KB

english, 2016

16

Severe CNS involvement in WWOX mutations: Description of five new cases

Tabarki, Brahim, AlHashem, Amal, AlShahwan, Saad, Alkuraya, Fowzan S., Gedela, Satyanarayana, Zuccoli, Giulio

Journal:

American Journal of Medical Genetics Part A

Année:

2015

Langue:

english

Fichier:

PDF, 425 KB

english, 2015

17

Effect of consanguinity on birth defects in Saudi women: Results from a nested case-control study

Majeed-Saidan, Muhammad Ali, Ammari, Amer N., AlHashem, Amal M., Al Rakaf, Maha S., Shoukri, Mohamed M., Garne, Ester, Kurdi, Ahmed Mohammed

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Année:

2015

Langue:

english

Fichier:

PDF, 85 KB

english, 2015

18

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

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

Journal:

Année:

2016

Langue:

english

Fichier:

PDF, 616 KB

english, 2016

19

Recessive AFG3L2 Mutation Causes Progressive Microcephaly, Early Onset Seizures, Spasticity, and Basal Ganglia Involvement

Eskandrani, Alaa, AlHashem, Amal, Ali, El-Sayed, AlShahwan, Saad, Tlili, Kalthoum, Hundallah, Khaled, Tabarki, Brahim

Journal:

Pediatric Neurology

Année:

2017

Langue:

english

Fichier:

PDF, 1.12 MB

english, 2017

20

Molecular autopsy in maternal–fetal medicine

Shamseldin, Hanan E, Kurdi, Wesam, Almusafri, Fatima, Alnemer, Maha, Alkaff, Alya, Babay, Zeneb, Alhashem, Amal, Tulbah, Maha, Alsahan, Nada, Khan, Rubina, Sallout, Bahauddin, Al Mardawi, Elham, Seida

Journal:

Genetics in Medicine

Année:

2017

Langue:

english

Fichier:

PDF, 329 KB

english, 2017

21

Correction to: Expanding the genetic heterogeneity of intellectual disability

Anazi, Shams, Maddirevula, Sateesh, Salpietro, Vincenzo, Asi, Yasmine T., Alsahli, Saud, Alhashem, Amal, Shamseldin, Hanan E., AlZahrani, Fatema, Patel, Nisha, Ibrahim, Niema, Abdulwahab, Firdous M.,

Journal:

Année:

2017

Langue:

english

Fichier:

PDF, 662 KB

english, 2017

22

Embryopathy associated with a vitamin therapy

Tabarki, Brahim, AlHashem, Amal, Tlili-Graiess, Kalthoum

Journal:

Pediatric Neurology

Année:

2018

Langue:

english

Fichier:

PDF, 275 KB

english, 2018

23

Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)

Bramswig, Nuria C., Bertoli-Avella, Aida M., Albrecht, Beate, Al Aqeel, Aida I., Alhashem, Amal, Al-Sannaa, Nouriya, Bah, Maissa, Bröhl, Katharina, Depienne, Christel, Dorison, Nathalie, Doummar, Dian

Journal:

Année:

2018

Langue:

english

Fichier:

PDF, 1.65 MB

english, 2018

24

Autozygome and high throughput confirmation of disease genes candidacy

Maddirevula, Sateesh, Alzahrani, Fatema, Al-Owain, Mohammed, Al Muhaizea, Mohammad A., Kayyali, Husam R., AlHashem, Amal, Rahbeeni, Zuhair, Al-Otaibi, Maha, Alzaidan, Hamad I., Balobaid, Ameera, El Kh

Journal:

Genetics in Medicine

Année:

2018

Langue:

english

Fichier:

PDF, 1.62 MB

english, 2018

25

Novel homozygous mutation of the AIMP1 gene: a milder neuroimaging phenotype with preservation of the deep white matter.

BoAli, Ahmed, Tlili-Graiess, Kalthoum, AlHashem, Amal, AlShahwan, Saad, Zuccoli, Giulio, Tabarki, Brahim

Journal:

Pediatric Neurology

Année:

2018

Langue:

english

Fichier:

PDF, 795 KB

english, 2018

26

6-Pyruvoyl-Tetrahydropterin Synthase Deficiency: Review and Report of 28 Arab Subjects

Almannai, Mohammed, Felemban, Rana, Saleh, Mohammed A., Faqeih, Eissa A., Alasmari, Ali, AlHashem, Amal, Mohamed, Sarar, Sunbul, Rawda, Al-Murshedi, Fathiya, AlThihli, Khalid, Eyaid, Wafaa, Ali, Rehab

Journal:

Pediatric Neurology

Année:

2019

Fichier:

PDF, 323 KB

2019

27

6-Pyruvoyl-Tetrahydropterin Synthase Deficiency: Review and Report of 28 Arab Subjects

Almannai, Mohammed, Felemban, Rana, Saleh, Mohammed A., Faqeih, Eissa A., Alasmari, Ali, AlHashem, Amal, Mohamed, Sarar, Sunbul, Rawda, Al-Murshedi, Fathiya, AlThihli, Khalid, Eyaid, Wafaa, Ali, Rehab

Journal:

Pediatric Neurology

Année:

2019

Langue:

english

Fichier:

PDF, 323 KB

english, 2019

28

Patterns, prevalence, risk factors, and survival of newborns with congenital heart defects in a Saudi population: a three-year, cohort case-control study

Majeed-Saidan, Muhammad Ali, Atiyah, Merna, Ammari, Amer N., AlHashem, Amal M., Rakaf, Maha S., Shoukri, Mohamed M., Garne, Ester, Kurdi, Ahmed M.

Journal:

Journal of Congenital Cardiology

Année:

2019

Fichier:

PDF, 897 KB

2019

29

MDH1 deficiency is a metabolic disorder of the malate–aspartate shuttle associated with early onset severe encephalopathy

Broeks, Melissa H., Shamseldin, Hanan E., Alhashem, Amal, Hashem, Mais, Abdulwahab, Firdous, Alshedi, Tarfa, Alobaid, Iman, Zwartkruis, Fried, Westland, Denise, Fuchs, Sabine, Verhoeven-Duif, Nanda M.

Journal:

Année:

2019

Langue:

english

Fichier:

PDF, 2.41 MB

english, 2019

30

A de novo splicing variant supports the candidacy of TLL1 in ASD pathogenesis

Alanzi, Talal, Alhashem, Amal, Dagriri, Khalid, Alzahrani, Fatema, Alkuraya, Fowzan S.

Journal:

European Journal of Human Genetics

Année:

2019

Langue:

english

Fichier:

PDF, 1.86 MB

english, 2019

31

Biallelic mutations in TTC26 ( IFT56 ) cause severe biliary ciliopathy in humans

Shaheen, Ranad, Alsahli, Saud, Ewida, Nour, Alzahrani, Fatema, Shamseldin, Hanan E, Patel, Nisha, Al qahtani, Awad, Alhebby, Homoud, Alhashem, Amal, Al‐Sheddi, Tarfa, Alomar, Rana, Alobeid, Eman, Abou

Journal:

Année:

2019

Langue:

english

Fichier:

PDF, 15.35 MB

english, 2019

32

Biallelic mutations in TTC26 ( IFT56 ) cause severe biliary ciliopathy in humans

Shaheen, Ranad, Alsahli, Saud, Ewida, Nour, Alzahrani, Fatema, Shamseldin, Hanan E, Patel, Nisha, Al qahtani, Awad, Alhebby, Homoud, Alhashem, Amal, Al‐Sheddi, Tarfa, Alomar, Rana, Alobeid, Eman, Abou

Journal:

Année:

2019

Fichier:

PDF, 15.35 MB

2019

33

Peripheral venous route for administration of ammonul infusion for treatment of acute hyperammonemia. An experience from a tertiary center in Saudi Arabia

Alhashem, Amal, Salih, Rihab, Al-Aqeel, Aida, Mohamed, Sarar

Journal:

Saudi Medical Journal

Année:

2020

Fichier:

PDF, 248 KB

2020

34

Recurrent homozygous damaging mutation in TMX2 , encoding a protein disulfide isomerase, in four families with microlissencephaly

Ghosh, Shereen Georges, Wang, Lu, Breuss, Martin W, Green, Joshua D, Stanley, Valentina, Yang, Xiaoxu, Ross, Danica, Traynor, Bryan J, Alhashem, Amal M, Azam, Matloob, Selim, Laila, Bastaki, Laila, El

Journal:

Journal of Medical Genetics

Année:

2020

Langue:

english

Fichier:

PDF, 1.15 MB

english, 2020

35

ADAMTS19 associated heart valve defects: novel genetic variants consolidating a recognizable cardiac phenotype

Massadeh, Salam, AlHashem, Amal, Laar, Ingrid, Alhabshan, Fahad, Ordonez, Natalia, Alawbathani, Salem, Khan, Suliman, Kabbani, Mohamed S., Chaikhouni, Farah, Sheereen, Atia, Almohammed, Iman, Alghamdi

Journal:

Clinical Genetics

Année:

2020

Fichier:

PDF, 1.35 MB

2020

36

Congenital anomalies and associated risk factors in a Saudi population: a cohort study from pregnancy to age 2 years

Kurdi, Ahmed M, Majeed-Saidan, Muhammad Ali, Al Rakaf, Maha S, AlHashem, Amal M, Botto, Lorenzo D, Baaqeel, Hassan S, Ammari, Amer N

Journal:

Année:

2019

Fichier:

PDF, 969 KB

2019

37

Categorized Genetic Analysis in Childhood-Onset Cardiomyopathy

Al-Hassnan, Zuhair N., Almesned, Abdulrahman, Tulbah, Sahar, Alakhfash, Ali, Alhadeq, Faten, Alruwaili, Nadiah, Alkorashy, Maarab, Alhashem, Amal, Alrashdan, Ahmad, Faqeih, Eissa, Alkhalifi, Salwa M.,

Journal:

Circulation: Genomic and Precision Medicine

Année:

2020

Fichier:

PDF, 537 KB

2020