Al-Gazali, L. I.: search on Z-Library

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

Don't use scam websites

1

Retention in the endoplasmic reticulum is the underlying mechanism of some hereditary haemorrhagic telangiectasia type 2 ALK1 missense mutations

Hume, Alistair N., John, Anne, Akawi, Nadia A., Al-Awadhi, Aydah M., Al-Suwaidi, Sarah S., Al-Gazali, Lihadh, Ali, Bassam R.

Journal:

Molecular and Cellular Biochemistry

Year:

2013

Language:

english

File:

PDF, 1012 KB

english, 2013

2

A mutation inKIF7is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance

Bassam R Ali, Jennifer L Silhavy, Nadia A Akawi, Joseph G Gleeson, Lihadh Al-Gazali

Journal:

Orphanet Journal of Rare Diseases

Year:

2012

Language:

english

File:

PDF, 1.67 MB

english, 2012

3

Mental Health Problems Among Schoolchildren in United Arab Emirates: Prevalence and Risk Factors

EAPEN, VALSAMMA, AL-GAZALI, LIHADH, BIN-OTHMAN, SALEM, ABOU-SALEH, MOHAMMED

Journal:

Journal of the American Academy of Child & Adolescent Psychiatry

Year:

1998

Language:

english

File:

PDF, 689 KB

english, 1998

4

The mutational spectrum of theNF1gene in neurofibromatosis type I patients from UAE

Ben-Salem, Salma, Al-Shamsi, Aisha M., Ali, Bassam R., Al-Gazali, Lihadh

Journal:

Child's Nervous System

Year:

2014

Language:

english

File:

PDF, 338 KB

english, 2014

5

LINS, a modulator of the WNT signaling pathway, is involved in human cognition

Akawi, Nadia A, Al-Jasmi, Fatma, Al-Shamsi, Aisha M, Ali, Bassam R, Al-Gazali, Lihadh

Journal:

Orphanet Journal of Rare Diseases

Year:

2013

Language:

english

File:

PDF, 1.19 MB

english, 2013

6

Mutations in the Pericentrin (PCNT) Gene Cause Primordial Dwarfism

Rauch, A., Thiel, C. T., Schindler, D., Wick, U., Crow, Y. J., Ekici, A. B., van Essen, A. J., Goecke, T. O., Al-Gazali, L., Chrzanowska, K. H., Zweier, C., Brunner, H. G., Becker, K., Curry, C. J., D

Journal:

Year:

2008

Language:

english

File:

PDF, 420 KB

english, 2008

7

United Arab Emirates: Communities and Community Genetics

Al-Gazali, L.I., Alwash, R., Abdulrazzaq, Y.M.

Journal:

Community Genetics

Year:

2005

Language:

english

File:

PDF, 275 KB

english, 2005

8

Attitudes toward Genetic Counseling in the United Arab Emirates

Al-Gazali, L.I.

Journal:

Community Genetics

Year:

2005

Language:

english

File:

PDF, 73 KB

english, 2005

9

EPG5 -related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy

Byrne, Susan, Jansen, Lara, U-King-Im, Jean-Marie, Siddiqui, Ata, Lidov, Hart G. W., Bodi, Istvan, Smith, Luke, Mein, Rachael, Cullup, Thomas, Dionisi-Vici, Carlo, Al-Gazali, Lihadh, Al-Owain, Mohamme

Journal:

Year:

2016

Language:

english

File:

PDF, 1.49 MB

english, 2016

10

CONSANGUINEOUS MARRIAGES IN THE UNITED ARAB EMIRATES

AL-GAZALI, L. I., BENER, A., ABDULRAZZAQ, Y. M., MICALLEF, R., AL-KHAYAT, A. I., GABER, T.

Journal:

Journal of Biosocial Science

Year:

1997

Language:

english

File:

PDF, 105 KB

english, 1997

11

A recessive syndrome of intellectual disability, moderate overgrowth, and renal dysplasia predisposing to Wilms tumor is caused by a mutation in FIBP gene

Akawi, Nadia, Ben-Salem, Salma, Lahti, Laura, Partanen, Juha, Ali, Bassam R., Al-Gazali, Lihadh

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 1023 KB

english, 2016

12

Compound heterozygous variants in the multiple PDZ domain protein (MPDZ) cause a case of mild non-progressive communicating hydrocephalus

Al-Jezawi, Nesreen K., Al-Shamsi, Aisha M., Suleiman, Jehan, Ben-Salem, Salma, John, Anne, Vijayan, Ranjit, Ali, Bassam R., Al-Gazali, Lihadh

Journal:

BMC Medical Genetics

Year:

2018

Language:

english

File:

PDF, 2.39 MB

english, 2018

13

A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome

Cuvertino, Sara, Hartill, Verity, Colyer, Alice, Garner, Terence, Nair, Nisha, Al-Gazali, Lihadh, Canham, Natalie, Faundes, Victor, Flinter, Frances, Hertecant, Jozef, Holder-Espinasse, Muriel, Jackso

Journal:

Genetics in Medicine

Year:

2020

Language:

english

File:

PDF, 1.53 MB

english, 2020

14

Severe facial clefting, limbic dermoid, hypoplasia of the corpus callosum, and multiple skin appendages: Severe frontofacionasal “dysplasia” or newly recognised syndrome?

Al-Gazali, L. I., Dawodu, A. H., Hamada, M., Bakir, M., Bakalinová, D.

Journal:

American Journal of Medical Genetics

Year:

1996

File:

PDF, 174 KB

1996

15

Gerodermia osteodysplastica and wrinkly skin syndrome: Are they the same?

L.I. Al-Gazali, L. Sztriha, F. Skaff, D. Haas

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 322 KB

english, 2001

16

Abnormal folate metabolism and genetic polymorphism of the folate pathway in a child with Down syndrome and neural tube defect

L.I. Al-Gazali, R. Padmanabhan, S. Melnyk, P. Yi, I.P. Pogribny, M. Pogribna, M. Bakir, Z.A. Hamid, Y. Abdulrazzaq, A. Dawodu, S.J. James

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 86 KB

english, 2001

17

Mutations in POMT1 are found in a minority of patients with Walker–Warburg syndrome

Sophie C. Currier, Christine K. Lee, Bernard S. Chang, Adria L. Bodell, G. Shashidhar Pai, Leela Job, Lieven G. Lagae, Lihadh I. Al-Gazali, Wafaa M. Eyaid, Greg Enns, William B. Dobyns, Christopher A.

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 144 KB

english, 2005

18

Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers–Danlos syndrome (EDS VIA)

Cecilia Giunta, Ann Randolph, Lihadh I. Al-Gazali, Han G. Brunner, Marius E. Kraenzlin, Beat Steinmann

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 145 KB

english, 2005

19

A new autosomal recessive syndrome of ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities in an inbred Emirati family

L. Al-Gazali, J. Hertecant, K. Algawi, H. El Teraifi, M. Dattani

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 213 KB

english, 2008

20

Anterior segment anomalies of the eye, growth retardation associated with hypoplastic pituitary gland and endocrine abnormalities: Jung syndrome or a new syndrome?

Lihadh Al-Gazali, Bedir Shather, Waleed Kaplan, Kais Algawi, Bassam R. Ali

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 132 KB

english, 2009

21

Is autosomal recessive Silver–Russel syndrome a separate entity or is it part of the 3-M syndrome spectrum?

Nadia A. Akawi, Bassam R. Ali, Hanan Hamamy, Azmy Al-Hadidy, Lihadh Al-Gazali

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 11.08 MB

english, 2011

22

Distinguishing the four genetic causes of jouberts syndrome–related disorders

Enza Maria Valente, Sarah E. Marsh, Marco Castori, Tracy Dixon-Salazar, Enrico Bertini, Lihadh Al-Gazali, Jean Messer, Clara Barbot, C. Geoffrey Woods, Eugen Boltshauser, Asma A. Al-Tawari, Carmelo D.

Journal:

Annals of Neurology

Year:

2005

Language:

english

File:

PDF, 209 KB

english, 2005

23

Birth prevalence and pattern of osteochondrodysplasias in an inbred high risk population

Lihadh I. Al-Gazali, Mahmood Bakir, Zuhair Hamid, Elizabeth Varady, Mani Varghes, Danialla Haas, Abdulbari Bener, Rengasamy Padmanabhan, Yeusef M. Abdulrrazzzaq, Aden Kula Dawodu

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Year:

2003

Language:

english

File:

PDF, 249 KB

english, 2003

24

United Arab Emirates population data on three DNA tetrameric short tandem repeat loci: HUMTHO1, TPOX and CSF1PO — derived using multiplex polymerase chain reaction and manual typing

Professor Riad A. Bayoumi, Lihadh I. Al-Gazali, Uzma Jaffer, Mohamed S. A. Nur-E-kamal, Adekunle Dawodu, Abdulbari Bener, Valsamma Eapen, Bruce Budowle

Journal:

ELECTROPHORESIS

Year:

1997

Language:

english

File:

PDF, 376 KB

english, 1997

25

Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE)

Lihadh Al-Gazali, Bassam R. Ali

Journal:

Year:

2010

Language:

english

File:

PDF, 236 KB

english, 2010

26

Mutations in the human laminin β2 (LAMB2) gene and the associated phenotypic spectrum

Verena Matejas, Bernward Hinkes, Faisal Alkandari, Lihadh Al-Gazali, Ellen Annexstad, Mehmet B. Aytac, Margaret Barrow, Květa Bláhová, Detlef Bockenhauer, Hae Il Cheong, Iwona Maruniak-Chudek, Pierre

Journal:

Year:

2010

Language:

english

File:

PDF, 257 KB

english, 2010

27

Evaluating the forensic informativeness of mtDNA haplogroup H sub-typing on a Eurasian scale

Luísa Pereira, Martin Richards, Ana Goios, Antonio Alonso, Cristina Albarrán, Oscar Garcia, Doron M. Behar, Mukaddes Gölge, Jiři Hatina, Lihadh Al-Gazali, Daniel G. Bradley, Vincent Macaulay, António

Journal:

Forensic Science International

Year:

2006

Language:

english

File:

PDF, 385 KB

english, 2006

28

Pattern of central nervous system anomalies in a population with a high rate of consanguineous marriages

Li Al-Gazali, L Sztriha, A Dawodu, M Bakir, M Varghese, E Varady, J Scorer, Ym Abdulrazzaq, A Bener, R Padmanabhan

Journal:

Clinical Genetics

Year:

1999

Language:

english

File:

PDF, 382 KB

english, 1999

29

Molecular and clinical analysis of Ellis-van Creveld syndrome in the United Arab Emirates

Bassam R Ali, Nadia A Akawi, Faris Chedid, Mahmood Bakir, Moghis Ur Rehman, Aiman Rahmani, Lihadh Al-Gazali

Journal:

BMC Medical Genetics

Year:

2010

Language:

english

File:

PDF, 1.90 MB

english, 2010

30

Analphoid supernumerary marker chromosome characterized by aCGH and FISH as inv dup(3)(q25.33qter)de novoin a child with dysmorphic features and streaky pigmentation: case report

Sabita K Murthy, Ashok K Malhotra, Preenu S Jacob, Sehba Naveed, Eman EM Al-Rowaished, Sara Mani, Shabeer Padariyakam, R Pramathan, Ravi Nath, Mahmoud Taleb Al-Ali, Lihadh Al-Gazali

Journal:

Molecular Cytogenetics

Year:

2008

Language:

english

File:

PDF, 775 KB

english, 2008

31

Centromeric inactivation in a dicentric human Y;21 translocation chromosome

Andrew M. Fisher, Lihadh Al-Gazali, T. Pramathan, Roger Quaife, Annette E. Cockwell, John C. K. Barber, William C. Earnshaw, Joyce Axelman, Barbara R. Migeon, Chris Tyler-Smith

Journal:

Year:

1997

Language:

english

File:

PDF, 632 KB

english, 1997

32

Mutation analysis of theMKKSgene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients

A. Slavotinek, C. Searby, L. Al-Gazali, R. Hennekam, C. Schrander-Stumpel, M. Orcana-Losa, S. Pardo-Reoyo, A. Cantani, D. Kumar, Q. Capellini, G. Neri, E. Zackai, L. Biesecker

Journal:

Year:

2002

Language:

english

File:

PDF, 90 KB

english, 2002

33

Community genetics. Its definition 2010

Leo P. ten Kate, Lihadh Al-Gazali, Sonia Anand, Alan Bittles, Jean-Jacques Cassiman, Arnold Christianson, Martina C. Cornel, Hanan Hamamy, Helena Kääriäinen, Ulf Kristoffersson, David Marais, Victor B

Journal:

Journal of Community Genetics

Year:

2010

Language:

english

File:

PDF, 89 KB

english, 2010

34

Improved diagnosis of a common mutation (R248C) in the human growth factor receptor 3 (FGFR3) gene that causes type I Thanatophoric dysplasia

Mehmet Simsek, Lihadh Al-Gazali, Reyhanah Al-Mjeni, Riad Bayoumi

Journal:

Clinical Biochemistry

Year:

2003

Language:

english

File:

PDF, 62 KB

english, 2003

35

A study of possible deleterious effects of consanguinity

Y. M. Abdulrazzaq, A. Bener, L I. Al-Gazali, A. I. Al-Khayat, R. Micallef, T. Gaber

Journal:

Clinical Genetics

Year:

1997

Language:

english

File:

PDF, 666 KB

english, 1997

36

Radiological manifestations of the skeleton, lungs and brain in Stueve–Wiedemann syndrome

R Langer, L Al-Gazali, P Raupp, E Varady

Journal:

Journal of Medical Imaging and Radiation Oncology

Year:

2007

Language:

english

File:

PDF, 497 KB

english, 2007

37

Abnormal myelin formation in rhizomelic chondrodysplasia punctata type 2 (DHAPAT-deficiency)

László Sztriha, Lihadh I Al-Gazali, Ronald J A Wanders, Rob Ofman, Michael Nork, Gilles G Lestringant

Journal:

Developmental Medicine & Child Neurology

Year:

2000

Language:

english

File:

PDF, 117 KB

english, 2000

38

Doppler assessment of umbilical artery blood flow for the prediction of outcome in fetal cardiac abnormality

WIDAD AL-GAZALI, MICHAEL G. CHAPMAN, SUNDER K. CHITA, DIANE C. CRAWFORD, LINDSEY D. ALLAN

Journal:

BJOG: An International Journal of Obstetrics & Gynaecology

Year:

1987

Language:

english

File:

PDF, 299 KB

english, 1987

39

A Novel Early Onset Lethal Form of Catecholaminergic Polymorphic Ventricular Tachycardia Maps to Chromosome 7p14-p22

ZAHURUL A. BHUIYAN, MOHAMED A. HAMDAN, EMAN T.A. SHAMSI, ALEX V. POSTMA, MARCEL M.A.M. MANNENS, ARTHUR A. M. WILDE, LIHADH AL-GAZALI

Journal:

Journal of Cardiovascular Electrophysiology

Year:

2007

Language:

english

File:

PDF, 246 KB

english, 2007

40

Mutations in PYCR1 cause cutis laxa with progeroid features

Reversade, Bruno, Escande-Beillard, Nathalie, Dimopoulou, Aikaterini, Fischer, Björn, Chng, Serene C, Li, Yun, Shboul, Mohammad, Tham, Puay-Yoke, Kayserili, Hülya, Al-Gazali, Lihadh

Journal:

Nature Genetics

Year:

2009

Language:

english

File:

PDF, 880 KB

english, 2009

41

Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies

Bielas, Stephanie L, Silhavy, Jennifer L, Brancati, Francesco, Kisseleva, Marina V, Al-Gazali, Lihadh, Sztriha, Laszlo, Bayoumi, Riad A, Zaki, Maha S, Abdel-Aleem, Alice, Rosti, Rasim Ozgur

Journal:

Nature Genetics

Year:

2009

Language:

english

File:

PDF, 649 KB

english, 2009

42

Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans

Alders, Marielle, Hogan, Benjamin M, Gjini, Evisa, Salehi, Faranak, Al-Gazali, Lihadh, Hennekam, Eric A, Holmberg, Eva E, Mannens, Marcel M A M, Mulder, Margot F, Offerhaus, G Johan A

Journal:

Nature Genetics

Year:

2009

Language:

english

File:

PDF, 526 KB

english, 2009

43

Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

Valente, Enza Maria, Silhavy, Jennifer L, Brancati, Francesco, Barrano, Giuseppe, Krishnaswami, Suguna Rani, Castori, Marco, Lancaster, Madeline A, Boltshauser, Eugen, Boccone, Loredana, Al-Gazali, Li

Journal:

Nature Genetics

Year:

2006

Language:

english

File:

PDF, 299 KB

english, 2006

44

Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes

Kantarci, Sibel, Al-Gazali, Lihadh, Hill, R Sean, Donnai, Dian, Black, Graeme C M, Bieth, Eric, Chassaing, Nicolas, Lacombe, Didier, Devriendt, Koen, Teebi, Ahmad

Journal:

Nature Genetics

Year:

2007

Language:

english

File:

PDF, 236 KB

english, 2007

45

A new locus for autosomal recessive non-syndromal sensorineural hearing impairment (DFNB27) on chromosome 2q23–q31

Pulleyn, L J, Jackson, A P, Roberts, E, Carridice, A, Muxworthy, C, Houseman, M, Al-Gazali, L I, Lench, N J, Markham, A F, Mueller, R F

Journal:

European Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 134 KB

english, 2000

46

A novel mutation in PRG4 gene underlying camptodactyly-arthropathy-coxa vara-pericarditis syndrome with the possible expansion of the phenotype to include congenital cataract

Nadia A. Akawi, Bassam R. Ali, Lihadh Al-Gazali

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Year:

2012

Language:

english

File:

PDF, 149 KB

english, 2012

47

Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis

Mathilde Nizon, Céline Huber, Fabio De Leonardis, Rodolphe Merrina, Antonella Forlino, Mélanie Fradin, Beyhan Tuysuz, Bassam Y. Abu-Libdeh, Yasemin Alanay, Beate Albrecht, Lihadh Al-Gazali, Sarenur Yi

Journal:

Year:

2012

Language:

english

File:

PDF, 315 KB

english, 2012

48

Stuve–Wiedemann syndrome: a skeletal dysplasia characterized by bowed long bones

M. A. Begam, W. Alsafi, G. N. Bekdache, F. Chedid, L. Al-Gazali, H. M. Mirghani

Journal:

Ultrasound in Obstetrics & Gynecology

Year:

2011

Language:

english

File:

PDF, 630 KB

english, 2011

49

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

50

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, 27 KB

english, 2009

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