Faqeih, Eissa A.: search on Z-Library

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

Don't use scam websites

1

Osteogenesis imperfecta type III with intracranial hemorrhage and brachydactyly associated with mutations in exon 49 of COL1A2

Eissa Faqeih, Peter Roughley, Francis H. Glorieux, Frank Rauch

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 174 KB

english, 2009

2

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

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

Year:

2018

Language:

english

File:

PDF, 12.77 MB

english, 2018

4

Meier-Gorlin (ear-patella-short stature) syndrome: Growth hormone deficiency and previously unrecognized findings

Eissa Faqeih, Nadia Sakati, Ahmad S. Teebi

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 94 KB

english, 2005

5

Four siblings with distal renal tubular acidosis and nephrocalcinosis, neurobehavioral impairment, short stature, and distinctive facial appearance: A possible new autosomal recessive syndrome

Eissa Faqeih, Samhar I. Al-Akash, Nadia Sakati, Prof. Ahmad S. Teebi

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 329 KB

english, 2007

6

Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humans

Ranad Shaheen, Mohammed Al-Owain, Eissa Faqeih, Nadia Al-Hashmi, Ali Awaji, Zayed Al-Zayed, Fowzan S Alkuraya

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 3.12 MB

english, 2011

7

Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2

Stuart W. Tompson, Eissa Ali Faqeih, Leena Ala-Kokko, Jacqueline T. Hecht, Rika Miki, Tara Funari, Vincent A. Funari, Lisette Nevarez, Deborah Krakow, Daniel H. Cohn

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 214 KB

english, 2012

8

A TCTN2 mutation defines a novel Meckel Gruber syndrome locus

Ranad Shaheen, Eissa Faqeih, Mohammed Z. Seidahmed, Asma Sunker, Faten Ezzat Alali, AlQahtani Khadijah, Fowzan S. Alkuraya

Journal:

Year:

2011

Language:

english

File:

PDF, 298 KB

english, 2011

9

Determination of succinylacetone in dried blood spots and liquid urine as a dansylhydrazone by liquid chromatography tandem mass spectrometry

Osama Y. Al-Dirbashi, Mohamed S. Rashed, Herman J. Ten Brink, Cornelis Jakobs, Najlaa Filimban, Lujane Y. Al-Ahaidib, Minnie Jacob, Moeen M. Al-Sayed, Zuhair Al-Hassnan, Eissa Faqeih

Journal:

Journal of Chromatography B

Year:

2006

Language:

english

File:

PDF, 157 KB

english, 2006

10

Grebe-type chondrodysplasia: a novel missense mutation in a conserved cysteine of the growth differentiation factor 5

Muhammad Faiyaz-Ul-Haque, Eissa A. Faqeih, Hamad Al-Zaidan, Amal Al-Shammary, Syed H. E. Zaidi

Journal:

Journal of Bone and Mineral Metabolism

Year:

2008

Language:

english

File:

PDF, 366 KB

english, 2008

11

Recessive Mutations in DOCK6, Encoding the Guanidine Nucleotide Exchange Factor DOCK6, Lead to Abnormal Actin Cytoskeleton Organization and Adams-Oliver Syndrome

Ranad Shaheen, Eissa Faqeih, Asma Sunker, Heba Morsy, Tarfa Al-Sheddi, Hanan E. Shamseldin, Nouran Adly, Mais Hashem, Fowzan S. Alkuraya.

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 709 KB

english, 2011

12

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

13

Mutations in MEOX1, Encoding Mesenchyme Homeobox 1, Cause Klippel-Feil Anomaly

Mohamed, Jawahir Y., Faqeih, Eissa, Alsiddiky, Abdulmonem, Alshammari, Muneera J., Ibrahim, Niema A., Alkuraya, Fowzan S.

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 804 KB

english, 2013

14

POC1A Truncation Mutation Causes a Ciliopathy in Humans Characterized by Primordial Dwarfism

Ranad Shaheen, Eissa Faqeih, Hanan E. Shamseldin, Ramil R. Noche, Asma Sunker, Muneera J. Alshammari, Tarfa Al-Sheddi, Nouran Adly, Mohammed S. Al-Dosari, Sean G. Megason, Muneera Al-Husain, Futwan Al

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 683 KB

english, 2012

15

A truncating mutation inB3GNT1causes severe Walker–Warburg syndrome

Ranad Shaheen, Eissa Faqeih, Shinu Ansari, Fowzan S. Alkuraya

Journal:

Year:

2013

Language:

english

File:

PDF, 200 KB

english, 2013

16

Mutations in FBXL4 Cause Mitochondrial Encephalopathy and a Disorder of Mitochondrial DNA Maintenance

Bonnen, Penelope E., Yarham, John W., Besse, Arnaud, Wu, Ping, Faqeih, Eissa A., Al-Asmari, Ali Mohammad, Saleh, Mohammad A.M., Eyaid, Wafaa, Hadeel, Alrukban, He, Langping, Smith, Frances, Yau, Shu,

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 53 KB

english, 2013

17

Mutations in EOGT Confirm the Genetic Heterogeneity of Autosomal-Recessive Adams-Oliver Syndrome

Shaheen, Ranad, Aglan, Mona, Keppler-Noreuil, Kim, Faqeih, Eissa, Ansari, Shinu, Horton, Kim, Ashour, Adel, Zaki, Maha S., Al-Zahrani, Fatema, Cueto-González, Anna M., Abdel-Salam, Ghada, Temtamy, Sam

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 956 KB

english, 2013

18

Clinical and Molecular Characteristics of Mitochondrial DNA Depletion Syndrome Associated with Neonatal Cholestasis and Liver Failure

Al-Hussaini, Abdulrahman, Faqeih, Eissa, El-Hattab, Ayman W., Alfadhel, Majid, Asery, Ali, Alsaleem, Badr, Bakhsh, Eman, Ali, Ashraf, Alasmari, Ali, Lone, Khurram, Nahari, Ahmed, Eyaid, Wafaa, Al Balw

Journal:

The Journal of Pediatrics

Year:

2014

Language:

english

File:

PDF, 1.23 MB

english, 2014

19

The expression of the gene seems to determine severity of cardiac involvement in geleophysic dysplasia

Elhoury, M.E., Faqeih, Eissa, Galal, M.O.

Journal:

Journal of the Saudi Heart Association (SAUDI ARABIA)

Year:

2013

Language:

english

File:

PDF, 44 KB

english, 2013

20

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

Year:

2014

Language:

english

File:

PDF, 1.58 MB

english, 2014

21

Exome Sequencing Identifies INPPL1 Mutations as a Cause of Opsismodysplasia

Huber, Céline, Faqeih, Eissa Ali, Bartholdi, Deborah, Bole-Feysot, Christine, Borochowitz, Zvi, Cavalcanti, Denise P., Frigo, Amandine, Nitschke, Patrick, Roume, Joelle, Santos, Heloísa G., Shalev, St

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 310 KB

english, 2013

22

Mutations in FBXL4 Cause Mitochondrial Encephalopathy and a Disorder of Mitochondrial DNA Maintenance

Bonnen, Penelope E., Yarham, John W., Besse, Arnaud, Wu, Ping, Faqeih, Eissa A., Al-Asmari, Ali Mohammad, Saleh, Mohammad A.M., Eyaid, Wafaa, Hadeel, Alrukban, He, Langping, Smith, Frances, Yau, Shu,

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 1.77 MB

english, 2013

23

Genomic analysis of Meckel–Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes

Shaheen, Ranad, Faqeih, Eissa, Alshammari, Muneera J, Swaid, Abdulrahman, Al-Gazali, Lihadh, Mardawi, Elham, Ansari, Shinu, Sogaty, Sameera, Seidahmed, Mohammed Z, AlMotairi, Muhammed I, Farra, Chanta

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 1.47 MB

english, 2013

24

Novel homozygous DEAF1 variant suspected in causing white matter disease, intellectual disability, and microcephaly

Faqeih, Eissa A., Al-Owain, Mohammed, Colak, Dilek, Kenana, Rosan, Al-Yafee, Yusra, Al-Dosary, Mazhor, Al-Saman, Abdulaziz, Albalawi, Fadwa, Al-Sarar, Dalia, Domiaty, Dalia, Daghestani, Maha, Kaya, Na

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 2.44 MB

english, 2014

25

A molecular genetic analysis of childhood nephrotic syndrome in a cohort of Saudi Arabian families

Al-Hamed, Mohamed H, Al-Sabban, Essam, Al-Mojalli, Hamad, Al-Harbi, Naffaa, Faqeih, Eissa, Al Shaya, Hammad, Alhasan, Khalid, Al-Hissi, Safaa, Rajab, Mohamed, Edwards, Noel, Al-Abbad, Abbas, Al-Hassou

Journal:

Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 1.25 MB

english, 2013

26

Mutation of HES7 in a large extended family with spondylocostal dysostosis and dextrocardia with situs inversus

Sparrow, Duncan B., Faqeih, Eissa Ali, Sallout, Bahauddin, Alswaid, Abdulrahman, Ababneh, Faroug, Al-Sayed, Moeenaldeen, Rukban, Hadeel, Eyaid, Wafaa M., Kageyama, Ryoichiro, Ellard, Sian, Turnpenny,

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 388 KB

english, 2013

27

A novel syndrome of Klippel-Feil anomaly, myopathy, and characteristic facies is linked to a null mutation in MYO18B

Alazami, Anas M, Kentab, Amal Y, Faqeih, Eissa, Mohamed, Jawahir Y, Alkhalidi, Hisham, Hijazi, Hadia, Alkuraya, Fowzan S

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 2.45 MB

english, 2015

28

Cardiac involvement in geleophysic dysplasia in three siblings of a Saudi family

Elhoury, Motea E., Faqeih, Eissa, Almoukirish, Abdulrahman S., Galal, Mohammed O.

Journal:

Cardiology in the Young

Year:

2015

Language:

english

File:

PDF, 362 KB

english, 2015

29

Identification of a novel MKS locus defined by TMEM107 mutation

Shaheen, Ranad, Almoisheer, Agaadir, Faqeih, Eissa, Babay, Zainab, Monies, Dorota, Tassan, Nada, Abouelhoda, Mohamed, Kurdi, Wesam, Al Mardawi, Elham, Khalil, Mohamed M.I., Seidahmed, Mohammed Zain, A

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 569 KB

english, 2015

30

Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy

Shamseldin, Hanan E., Faqeih, Eissa, Alasmari, Ali, Zaki, Maha S., Gleeson, Joseph G., Alkuraya, Fowzan S.

Journal:

The American Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 1.16 MB

english, 2016

31

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:

Year:

2016

Language:

english

File:

PDF, 5.91 MB

english, 2016

32

A homozygous truncating mutation inPUS3expands the role of tRNA modification in normal cognition

Shaheen, Ranad, Han, Lu, Faqeih, Eissa, Ewida, Nour, Alobeid, Eman, Phizicky, Eric M., Alkuraya, Fowzan S.

Journal:

Year:

2016

Language:

english

File:

PDF, 3.57 MB

english, 2016

33

Familial pseudotail, scoliosis and synpolydactyly syndrome

Alfawareh, Mohammad, Orief, Tamer, Faqeih, Eissa

Journal:

European Spine Journal

Year:

2016

Language:

english

File:

PDF, 1.36 MB

english, 2016

34

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

Year:

2016

Language:

english

File:

PDF, 455 KB

english, 2016

35

Novel copy number variants and major limb reduction malformation: Report of three cases

Shamseldin, Hanan E., Anazi, Shams, Wakil, Salma M., Faqeih, Eissa, El Khashab, Heba Y., Salih, Mustafa A., Al-Qattan, Mohammad M., Hashem, Mais, Alsedairy, Haifa, Alkuraya, Fowzan S.

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 4.55 MB

english, 2016

36

ADAT3 -related intellectual disability: Further delineation of the phenotype

El-Hattab, Ayman W., Saleh, Mohammed A., Hashem, Amal, Al-Owain, Mohammed, Asmari, Ali Al, Rabei, Hala, Abdelraouf, Hanem, Hashem, Mais, Alazami, Anas M., Patel, Nisha, Shaheen, Ranad, Faqeih, Eissa A

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 323 KB

english, 2016

37

A further case of micrognathia, aglossia, and situs inversus totalis with additional features

Faqeih, Eissa, Farra, Hassan, Al-Hassnan, Zuhair

Journal:

Clinical Dysmorphology

Year:

2008

Language:

english

File:

PDF, 93 KB

english, 2008

38

Novel STAMBP mutation and additional findings in an Arabic family

Faqeih, Eissa A., Bastaki, Laila, Rosti, Rasim Ozgur, Spencer, Emily G., Zada, AbdulAli P., Saleh, Mohammad A. M., Um, Kyongmi, Gleeson, Joseph G.

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 559 KB

english, 2015

39

Localized acalvaria with craniosynostosis

Faqeih, Eissa, Patay, Zoltan, Rahbeeni, Zuhair, Murtada, Jamila, Al Shail, Essam, Hall, Judith G.

Journal:

Clinical Dysmorphology

Year:

2008

Language:

english

File:

PDF, 251 KB

english, 2008

40

Increasing the sensitivity of clinical exome sequencing through improved filtration strategy

Shamseldin, Hanan E., Maddirevula, Sateesh, Faqeih, Eissa, Ibrahim, Niema, Hashem, Mais, Shaheen, Ranad, Alkuraya, Fowzan S.

Journal:

Genetics in Medicine

Year:

2016

Language:

english

File:

PDF, 483 KB

english, 2016

41

Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families

Sass, Jörn Oliver, Gemperle-Britschgi, Corinne, Tarailo-Graovac, Maja, Patel, Nisha, Walter, Melanie, Jordanova, Albena, Alfadhel, Majid, Barić, Ivo, Çoker, Mahmut, Damli-Huber, Aynur, Faqeih, Eissa A

Journal:

Molecular Genetics and Metabolism

Year:

2016

Language:

english

File:

PDF, 297 KB

english, 2016

42

Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract

Patel, Nisha, Anand, Deepti, Monies, Dorota, Maddirevula, Sateesh, Khan, Arif O., Algoufi, Talal, Alowain, Mohammed, Faqeih, Eissa, Alshammari, Muneera, Qudair, Ahmed, Alsharif, Hadeel, Aljubran, Fati

Journal:

Year:

2017

Language:

english

File:

PDF, 605 KB

english, 2017

43

Characterizing the morbid genome of ciliopathies

Shaheen, Ranad, Szymanska, Katarzyna, Basu, Basudha, Patel, Nisha, Ewida, Nour, Faqeih, Eissa, Al Hashem, Amal, Derar, Nada, Alsharif, Hadeel, Aldahmesh, Mohammed A., Alazami, Anas M., Hashem, Mais, I

Journal:

Year:

2016

Language:

english

File:

PDF, 1.70 MB

english, 2016

44

Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation

Monies, Dorota, Maddirevula, Sateesh, Kurdi, Wesam, Alanazy, Mohammed H., Alkhalidi, Hisham, Al-Owain, Mohammed, Sulaiman, Raashda A., Faqeih, Eissa, Goljan, Ewa, Ibrahim, Niema, Abdulwahab, Firdous,

Journal:

Genetics in Medicine

Year:

2017

Language:

english

File:

PDF, 1.15 MB

english, 2017

45

The Phenotype and Outcome of Infantile Cardiomyopathy Caused by a Homozygous ELAC2 Mutation

Shinwari, Zarghuna M.A., Almesned, Abdulrahman, Alakhfash, Ali, Al-Rashdan, Ahmad M., Faqeih, Eissa, Al-Humaidi, Zainab, Alomrani, Ahmed, Alghamdi, Malak, Colak, Dilek, Alwadai, Abdullah, Rababh, Mont

Journal:

Year:

2017

Language:

english

File:

PDF, 86 KB

english, 2017

46

Molecular and clinical spectra of FBXL4 deficiency

El-Hattab, Ayman W., Dai, Hongzheng, Almannai, Mohammed, Wang, Julia, Faqeih, Eissa A., Al Asmari, Ali, Saleh, Mohammed A. M., Elamin, Mohammed A. O., Alfadhel, Majid, Alkuraya, Fowzan S., Hashem, Mai

Journal:

Year:

2017

Language:

english

File:

PDF, 873 KB

english, 2017

47

A null mutation in MICU2 causes abnormal mitochondrial calcium homeostasis and a severe neurodevelopmental disorder

Shamseldin, Hanan E., Alasmari, Ali, Salih, Mohammed A., Samman, Manar M., Mian, Shahid A., Alshidi, Tarfa, Ibrahim, Niema, Hashem, Mais, Faqeih, Eissa, Al-Mohanna, Futwan, Alkuraya, Fowzan S.

Journal:

Year:

2017

Language:

english

File:

PDF, 630 KB

english, 2017

48

Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation

Ng, Bobby G., Xu, Gege, Chandy, Nandini, Steyermark, Joan, Shinde, Deepali N., Radtke, Kelly, Raymond, Kimiyo, Lebrilla, Carlito B., AlAsmari, Ali, Suchy, Sharon F., Powis, Zöe, Faqeih, Eissa Ali, Ber

Journal:

The American Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 1.82 MB

english, 2018

49

CORRIGENDUM: Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation

Monies, Dorota, Maddirevula, Sateesh, Kurdi, Wesam, Alanazy, Mohammed H, Alkhalidi, Hisham, Al-Owain, Mohammed, Sulaiman, Raashda A, Faqeih, Eissa, Goljan, Ewa, Ibrahim, Niema, Abdulwahab, Firdous, Ha

Journal:

Genetics in Medicine

Year:

2018

Language:

english

File:

PDF, 49 KB

english, 2018

50

Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy

Burns, David T., Donkervoort, Sandra, Müller, Juliane S., Knierim, Ellen, Bharucha-Goebel, Diana, Faqeih, Eissa Ali, Bell, Stephanie K., AlFaifi, Abdullah Y., Monies, Dorota, Millan, Francisca, Retter

Journal:

The American Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 2.51 MB

english, 2018

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@z-lib.do

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