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51

A novel syndromic form of sensory-motor polyneuropathy is linked to chromosome 22q13.31-q13.33

S Bohlega, AM Alazami, E Cupler, H Al-Hindi, E Ibrahim, FS Alkuraya

Journal:

Clinical Genetics

Year:

2011

Language:

english

File:

PDF, 718 KB

english, 2011

52

A novel PTF1A mutation in a patient with severe pancreatic and cerebellar involvement

M Al-Shammari, M Al-Husain, T Al-Kharfy, FS Alkuraya

Journal:

Clinical Genetics

Year:

2011

Language:

english

File:

PDF, 609 KB

english, 2011

53

An autosomal recessive syndrome of severe cognitive impairment, dysmorphic facies and skeletal abnormalities maps to the long arm of chromosome 17

M Al-Owain, AM Alazami, FS Alkuraya

Journal:

Clinical Genetics

Year:

2011

Language:

english

File:

PDF, 631 KB

english, 2011

54

A novel mutation in PRDM5 in brittle cornea syndrome

MA Aldahmesh, JY Mohamed, FS Alkuraya

Journal:

Clinical Genetics

Year:

2012

Language:

english

File:

PDF, 574 KB

english, 2012

55

Syndromic congenital sensorineural deafness, microtia and microdontia resulting from a novel homoallelic mutation in fibroblast growth factor 3 (FGF3)

Alsmadi, Osama, Meyer, Brian F, Alkuraya, Fowzan, Wakil, Salma, Alkayal, Fadi, Al-Saud, Haya, Ramzan, Khushnooda, Al-Sayed, MoeenAldeen

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 310 KB

english, 2008

56

MGAT2-CDG (CDG-IIa) and dysmorphism

Fowzan S. Alkuraya

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 43 KB

english, 2012

57

Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus

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

Journal:

Year:

2012

Language:

english

File:

PDF, 189 KB

english, 2012

58

Molecular characterization of Joubert syndrome in Saudi Arabia

Anas M. Alazami, Muneera J. Alshammari, Mustafa A. Salih, Fatema Alzahrani, Hadia Hijazi, Mohammed Z. Seidahmed, Leen Abu Safieh, Mazhor Aldosary, Arif O. Khan, Fowzan S. Alkuraya

Journal:

Year:

2012

Language:

english

File:

PDF, 357 KB

english, 2012

59

Characterization of Apparently Balanced Chromosomal Rearrangements from the Developmental Genome Anatomy Project

Anne W. Higgins, Fowzan S. Alkuraya, Amy F. Bosco, Kerry K. Brown, Gail A.P. Bruns, Diana J. Donovan, Robert Eisenman, Yanli Fan, Chantal G. Farra, Heather L. Ferguson, James F. Gusella, David J. Harr

Journal:

The American Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 274 KB

english, 2008

60

Characterization of Apparently Balanced Chromosomal Rearrangements from the Developmental Genome Anatomy Project

Anne W. Higgins, Fowzan S. Alkuraya, Amy F. Bosco, Kerry K. Brown, Gail A.P. Bruns, Diana J. Donovan, Robert Eisenman, Yanli Fan, Chantal G. Farra, Heather L. Ferguson, James F. Gusella, David J. Harr

Journal:

The American Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 72 KB

english, 2008

61

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

62

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

63

Homozygous Mutations in ADAMTS10 and ADAMTS17 Cause Lenticular Myopia, Ectopia Lentis, Glaucoma, Spherophakia, and Short Stature

Jose Morales, Latifa Al-Sharif, Dania S. Khalil, Jameela M.A. Shinwari, Prashant Bavi, Rahima A. Al-Mahrouqi, Ali Al-Rajhi, Fowzan S. Alkuraya, Brian F. Meyer, Nada Al Tassan

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 1.12 MB

english, 2009

64

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, 269 KB

english, 2010

65

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

66

Vogel and Motulsky's Human Genetics, 4th Edition

Fowzan S. Alkuraya

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 31 KB

english, 2011

67

Deficiency of the Cytoskeletal Protein SPECC1L Leads to Oblique Facial Clefting

Irfan Saadi, Fowzan S. Alkuraya, Stephen S. Gisselbrecht, Wolfram Goessling, Resy Cavallesco, Annick Turbe-Doan, Aline L. Petrin, James Harris, Ursela Siddiqui, Arthur W. Grix Jr., Hanne D. Hove, Phil

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 2.41 MB

english, 2011

68

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

Language:

english

File:

PDF, 1.25 MB

english, 2011

69

Mutation of IGFBP7 Causes Upregulation of BRAF/MEK/ERK Pathway and Familial Retinal Arterial Macroaneurysms

Leen Abu-Safieh, Emad B. Abboud, Hisham Alkuraya, Hanan Shamseldin, Shamsa Al-Enzi, Lama Al-Abdi, Mais Hashem, Dilek Colak, Abdullah Jarallah, Hala Ahmad, Steve Bobis, Georges Nemer, Fadi Bitar, Fowza

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 1003 KB

english, 2011

70

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

71

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

72

Recessive Mutations in ELOVL4 Cause Ichthyosis, Intellectual Disability, and Spastic Quadriplegia

Mohammed A. Aldahmesh, Jawahir Y. Mohamed, Hisham S. Alkuraya, Ishwar C. Verma, Ratna D. Puri, Ayodele A. Alaiya, William B. Rizzo, Fowzan S. Alkuraya

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 696 KB

english, 2011

73

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

74

5-Oxoprolinase deficiency: report of the first human OPLAH mutation

IA Almaghlouth, JY Mohamed, M Al-Amoudi, L Al-Ahaidib, A Al-Odaib, FS Alkuraya

Journal:

Clinical Genetics

Year:

2012

Language:

english

File:

PDF, 591 KB

english, 2012

75

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

76

A case of de Barsy syndrome with a severe eye phenotype

Mohammed Al-Owain, Shamsa Alanazi, Ola Khalifa, Amal Al-Hemidan, Loai Al-Ebdi, Bandar Al-Saud, Fowzan S. Alkuraya

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 115 KB

english, 2012

77

Loss of function mutation in LARP7, chaperone of 7SK ncRNA, causes a syndrome of facial dysmorphism, intellectual disability, and primordial dwarfism

Anas M. Alazami, Mohammad Al-Owain, Fatema Alzahrani, Taghreed Shuaib, Hussain Al-Shamrani, Yahya H. Al-Falki, Saleh M. Al-Qahtani, Tarfa Alsheddi, Dilek Colak, Fowzan S. Alkuraya

Journal:

Year:

2012

Language:

english

File:

PDF, 292 KB

english, 2012

78

Study of consanguineous populations can improve the annotation of SNP databases

Hanan E. Shamseldin, Mohammed Al-Dosari, Latifa Al-Jbali, Zuhair Rahbeeni, Alya Qari, Mais Hashem, Fowzan S. Alkuraya

Journal:

European Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 445 KB

english, 2011

79

Identification of differentially expressed proteins in the aqueous humor of primary congenital glaucoma

Rachida A. Bouhenni, Sami Al Shahwan, Jose Morales, Bassam T. Wakim, Anthony M. Chomyk, Fowzan S. Alkuraya, Deepak P. Edward

Journal:

Experimental Eye Research

Year:

2011

Language:

english

File:

PDF, 300 KB

english, 2011

80

Vanishing white matter disease caused by EIF2B2 mutation with the presentation of an adrenoleukodystrophy phenotype

Ahmed Alsalem, Ranad Shaheen, Fowzan S. Alkuraya

Journal:

Year:

2012

Language:

english

File:

PDF, 477 KB

english, 2012

81

Familial dorsalization of the skin of the proximal palm and the instep of the sole of the foot

M.M. AL-Qattan, H.E. Shamseldin, F.S. Alkuraya

Journal:

Year:

2012

Language:

english

File:

PDF, 351 KB

english, 2012

82

Familial juvenile glaucoma with underlying homozygous p.G61E CYP1B1 mutations

Arif O. Khan, Lama Al-Abdi, Jawahir Y. Mohamed, Mohammed A. Aldahmesh, Fowzan S. Alkuraya

Journal:

Journal of American Association for Pediatric Ophthalmology and Strabismus

Year:

2011

Language:

english

File:

PDF, 66 KB

english, 2011

83

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

84

Saudi genetic ophthalmology research: The local and global impact

Fowzan S. Alkuraya

Journal:

Saudi Journal of Ophthalmology

Year:

2010

Language:

english

File:

PDF, 280 KB

english, 2010

85

No evidence for rare pathological SIAE coding variants in patients with vitiligo

Nouf Al-Yami, Latifa Al-Jbali, Khalid M AlGhamdi, Fowzan S. Alkuraya

Journal:

International Journal of Dermatology

Year:

2012

Language:

english

File:

PDF, 67 KB

english, 2012

86

Later retinal degeneration following childhood surgical aphakia in a family with recessive CRYAB mutation (p.R56W)

Khan, Arif O., Safieh, Leen Abu, Alkuraya, Fowzan S.

Journal:

Ophthalmic Genetics

Year:

2010

Language:

english

File:

PDF, 1004 KB

english, 2010

87

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

88

A novel C2orf37 mutation causes the first Italian cases of Woodhouse Sakati syndrome

K Steindl, AM Alazami, KP Bhatia, JT Wuerfel, D Petersen, R Cartolari, G Neri, C Klein, B Mongiardo, FS Alkuraya, SA Schneider

Journal:

Clinical Genetics

Year:

2010

Language:

english

File:

PDF, 588 KB

english, 2010

89

Weaver syndrome and defective cortical development: A rare association

Al-Salem, Ahmed, Alshammari, Muneera J., Hassan, Hamdy, Alazami, Anas M., Alkuraya, Fowzan S.

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 161 KB

english, 2013

90

Autozygosity Mapping with Exome Sequence Data

Carr, Ian M., Bhaskar, Sanjeev, O’ Sullivan, James, Aldahmesh, Mohammed A., Shamseldin, Hanan E., Markham, Alexander F., Bonthron, David T., Black, Graeme, Alkuraya, Fowzan S.

Journal:

Year:

2013

Language:

english

File:

PDF, 605 KB

english, 2013

91

Identification of a novel ZNF469 mutation in a large family with Ehlers–Danlos phenotype

Mohammed Al-Owain, Mohammed S. Al-Dosari, Asma Sunker, Taghreed Shuaib, Fowzan S. Alkuraya

Journal:

Year:

2012

Language:

english

File:

PDF, 447 KB

english, 2012

92

Molecular pathogenesis of fibrochondrogenesis: Is it really simple COL11A1 deficiency?

Fatema Alzahrani, Muneera J. Alshammari, Fowzan S. Alkuraya

Journal:

Year:

2012

Language:

english

File:

PDF, 447 KB

english, 2012

93

Identification of MRI1, encoding translation initiation factor eIF-2B subunit alpha/beta/delta-like protein, as a candidate locus for infantile epilepsy with severe cystic degeneration of the brain

Asma Sunker, Fowzan S. Alkuraya

Journal:

Year:

2013

Language:

english

File:

PDF, 537 KB

english, 2013

94

CYP1B1 analysis of unilateral primary newborn glaucoma in Saudi children

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

Journal:

Journal of American Association for Pediatric Ophthalmology and Strabismus

Year:

2012

Language:

english

File:

PDF, 63 KB

english, 2012

95

A novel syndrome of lethal familial hyperekplexia associated with brain malformation

Mohammed Zein Seidahmed, Mustafa A Salih, Omer B Abdulbasit, Meeralebbae Shaheed, Khalid Al Hussein, Abeer M Miqdad, Abdullah K Al Rasheed, Anas M Alazami, Ibrahim A Alorainy, Fowzan S Alkuraya

Journal:

Year:

2012

Language:

english

File:

PDF, 345 KB

english, 2012

96

Genetic heterogeneity in type III familial cutaneous syndactyly and linkage to chromosome 7q36

Al-Qattan, Mohammad M., Shamseldin, Hanan E., Al Mazyad, Mohammed, Al Deghaither, Saud, Alkuraya, Fowzan S.

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 249 KB

english, 2013

97

Mutations in LRPAP1 Are Associated with Severe Myopia in Humans

Aldahmesh, Mohammed A., Khan, Arif O., Alkuraya, Hisham, Adly, Nouran, Anazi, Shamsa, Al-Saleh, Ahmed A., Mohamed, Jawahir Y., Hijazi, Hadia, Prabakaran, Sarita, Tacke, Marlene, Al-Khrashi, Abdullah,

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 1.67 MB

english, 2013

98

Gonadal mosaicism as a rare cause of autosomal recessive inheritance

Anazi, S., Al-Sabban, E., Alkuraya, F.S.

Journal:

Clinical Genetics

Year:

2014

Language:

english

File:

PDF, 587 KB

english, 2014

99

The application of next-generation sequencing in the autozygosity mapping of human recessive diseases

Fowzan S. Alkuraya

Journal:

Year:

2013

Language:

english

File:

PDF, 607 KB

english, 2013

100

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