N. A. Sakati: search on Z-Library

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51

A novel mutation in the deoxyribonucleic acid-binding domain of the vitamin D receptor causes hereditary 1,25-dihydroxyvitamin D-resistant rickets.

Lin, N U, Malloy, P J, Sakati, N, al-Ashwal, A, Feldman, D

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

1996

Language:

english

File:

PDF, 1.38 MB

english, 1996

52

Hereditary Resistance to 1,25-Dihydroxyvitamin D: Clinical and Radiological Improvement during High-Dose Oral Calcium Therapy

Sakati, Nadia, Woodhouse, Nicholas J.Y., Niles, Nancy, Harfi, Harb, de Grange, Donald A., Marx, Stephen

Journal:

Hormone Research

Year:

1986

File:

PDF, 979 KB

1986

53

Marshall syndrome: Further evidence of a distinct phenotypic entity and report of new findings

Khalifa, O., Imtiaz, F., Ramzan, K., Allam, R., Hemidan, A. Al-, Faqeih, E., Abuharb, G., Balobaid, A., Sakati, N., Owain, M. Al-

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 331 KB

english, 2014

54

Pituitary Gland Enlargement in Primary Hypothyroidism: A Report of 5 Cases with Follow-Up Data

Ahmed, Mohammed, Banna, Mohammed, Sakati, Nadia, Woodhouse, Nicholas

Journal:

Hormone Research

Year:

1989

File:

PDF, 937 KB

1989

55

Endocrine Sequelae of Childhood Craniopharyngioma

Bin-Abbas, B., Mawlawi, H., Sakati, N., Khafaja, Y., Ashraf Chaudhary, M., Al-Ashwal, A.

Journal:

Journal of Pediatric Endocrinology and Metabolism

Year:

2001

Language:

english

File:

PDF, 1.73 MB

english, 2001

56

A recessive form of Marshall syndrome is caused by a mutation in the COL11A1 gene

Khalifa, O., Imtiaz, F., Allam, R., Al-Hassnan, Z., Al-Hemidan, A., Al-Mane, K., Abuharb, G., Balobaid, A., Sakati, N., Hyland, J., Al-Owain, M.

Journal:

Journal of Medical Genetics

Year:

2012

Language:

english

File:

PDF, 325 KB

english, 2012

57

Inborn Error of Vitamin B12 Metabolism: A Treatable Cause of Childhood Dementia/Paralysis

Al Essa, M., Sakati, N. A., Dabbagh, O., Joshi, S., Al Jishi, E. A., Rashed, M. S., Powe, J. E., Ozand, P. T.

Journal:

Journal of Child Neurology

Year:

1998

Language:

english

File:

PDF, 643 KB

english, 1998

58

Combined TSC1 and LMX1B mutations in a single patient

Khalifa, Ola, Al-Sakati, Nadia, Al-Mane, Khalid, Balobaid, Ameera, Al-Hassnan, Zuhair N.

Journal:

Clinical Dysmorphology

Year:

2014

Language:

english

File:

PDF, 376 KB

english, 2014

59

Allelic Exclusion of the TCR -Chain Is an Active Process Requiring TCR-Mediated Signaling and c-Cbl

Niederberger, N., Holmberg, K., Alam, S. M., Sakati, W., Naramura, M., Gu, H., Gascoigne, N. R. J.

Journal:

The Journal of Immunology

Year:

2003

Language:

english

File:

PDF, 425 KB

english, 2003

60

Congenital Cutis Laxa and Osteoporosis

Sakati, Nadia O.

Journal:

Archives of Pediatrics and Adolescent Medicine

Year:

1983

Language:

english

File:

PDF, 2.92 MB

english, 1983

61

Scimitar Syndrome

Mardini, M.K., Sakati, N.A., Lewall, D.B., Christie, R., Nyhan, W.L.

Journal:

Clinical Pediatrics

Year:

1982

Language:

english

File:

PDF, 1.29 MB

english, 1982

62

EDD enhances cell survival and cisplatin resistance and is a therapeutic target for epithelial ovarian cancer

Bradley, A., Zheng, H., Ziebarth, A., Sakati, W., Branham-O'Connor, M., Blumer, J. B., Liu, Y., Kistner-Griffin, E., Rodriguez-Aguayo, C., Lopez-Berestein, G., Sood, A. K., Landen, C. N., Eblen, S. T.

Journal:

Year:

2014

Language:

english

File:

PDF, 3.32 MB

english, 2014

63

Recently Available Techniques Applicable to Genetic Problems in the Middle East

Ozand, Pinar T., Odaib, Ali Al, Sakati, Nadia, Al-Hellani, Ali M.

Journal:

Community Genetics

Year:

2005

Language:

english

File:

PDF, 74 KB

english, 2005

64

Familial growth hormone deficiency: a model of dominant and recessive mutations affecting a monomeric protein.

Cogan, J D, Phillips, J A, Schenkman, S S, Milner, R D, Sakati, N

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

1994

Language:

english

File:

PDF, 924 KB

english, 1994

65

A syndrome of hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and ECG abnormalities.

Woodhouse, N J, Sakati, N A

Journal:

Journal of Medical Genetics

Year:

1983

Language:

english

File:

PDF, 648 KB

english, 1983

66

Unknown Dysmorphic Syndromes and Developmental Delay in Saudi Arabia

Nester, M. J., Sakati, N., Greer, W.

Journal:

Journal of Child Neurology

Year:

1992

Language:

english

File:

PDF, 474 KB

english, 1992

67

Long-term outcome of genital reconstruction of Middle Eastern women with congenital adrenal hyperplasia

Seyam, RaoufM, Bissada, NabilK, Abdul-Aaly, Mohamed, Sakati, NadiaA, Al Taweel, Waleed, Alkhudair, WaleedK

Journal:

Year:

2013

Language:

english

File:

PDF, 527 KB

english, 2013

68

Saudi Variant of Multiple Sulfatase Deficiency

Al Aqeel, A., Ozand, P.T., Brismar, J., Gascon, G.G., Brismar, G., Nester, M., Sakati, N.

Journal:

Journal of Child Neurology

Year:

1992

Language:

english

File:

PDF, 868 KB

english, 1992

69

Four Contiguous Amino Acid Substitutions, Identified in Patients with Laron Syndrome, Differently Affect the Binding Affinity and Intracellular Trafficking of the Growth Hormone Receptor 1

Wojcik, Jérôme, Berg, Mary Anne, Esposito, Nazario, Geffner, Mitchell E., Sakati, Nadia, Reiter, Edward O., Dower, Steven, Francke, Uta, Postel-Vinay, Marie-Catherine, Finidori, Joëlle

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

1998

Language:

english

File:

PDF, 2.48 MB

english, 1998

70

Heterogeneous growth hormone (GH) gene mutations in familial GH deficiency.

Cogan, J D, Phillips, J A, Sakati, N, Frisch, H, Schober, E, Milner, R D

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

1993

Language:

english

File:

PDF, 1.06 MB

english, 1993

71

Carbonic Anhydrase II Deficiency in 12 Families with the Autosomal Recessive Syndrome of Osteopetrosis with Renal Tubular Acidosis and Cerebral Calcification

Sly, William S., Whyte, Michael P., Sundaram, Vasantha, Tashian, Richard E., Hewett-Emmett, David, Guibaud, Pierre, Vainsel, Marc, Baluarte, H. Jorge, Gruskin, Alan, Al-Mosawi, M., Sakati, Nadia, Ohls

Journal:

Boston Medical and Surgical Journal

Year:

1985

Language:

english

File:

PDF, 4.21 MB

english, 1985

72

Microsurgery for giant craniopharyngiomas in children

Al-Mefty, O, Hassounah, M, Weaver, P, Sakati, N, Jinkins, J R, Fox, J L

Journal:

Year:

1985

File:

PDF, 7.03 MB

1985

73

One stage urethroplasty

C., Devine P., A., Sakati I., F., Poutasse E., J., Devine C., Wise, Robert J.

Journal:

Plastic & Reconstructive Surgery

Year:

1968

File:

PDF, 82 KB

1968

74

Bone Marrow Transplantation for Infantile Malignant Osteopetrosis

Solh, Hassan, Da Cunha, Antonio Martins, Giri, Neelam, Padmos, Andrew, Spence, David, Clink, Hugh, Ernst, Peter, Sakati, Nadia

Journal:

Journal of Pediatric Hematology/Oncology

Year:

1995

File:

PDF, 505 KB

1995

75

Microsurgery for Giant Craniopharyngiomas in Children

Al-Mefty, Ossama, Hassounah, Maher, Weaver, Philip, Sakati, Nadia, Jinkins, John R., Fox, John L.

Journal:

Year:

1985

File:

PDF, 7.03 MB

1985

76

Serum Lactic Dehydrogenase in Acute Renal Infarction and Ischemia

Sakati, Isam A., Devine, Patrick C., Devine, Charles J., Fiveash, Joseph G., Poutasse, Eugene F.

Journal:

Boston Medical and Surgical Journal

Year:

1968

File:

PDF, 510 KB

1968

77

Wolman's disease: The King Faisal Specialist Hospital and Research Centre experience

Al Essa}, M., Nounou, R., Sakati, N., {Le Quesne}, G., Joshi, S., Archibald, a., Ozand, P. T.

Journal:

Annals of Saudi Medicine

Year:

1998

Language:

english

File:

PDF, 30 KB

english, 1998

78

Exome sequencing identifies novel NTRK1 mutations in patients with HSAN-IV phenotype

Altassan, Ruqaiah, Saud, Haya Al, Masoodi, Tariq Ahmad, Dosssari, Haya Al, Khalifa, Ola, Al-Zaidan, Hamad, Sakati, Nadia, Rhabeeni, Zuhair, Al-Hassnan, Zuhair, Binamer, Yousef, Alhashemi, Nadia, Wade,

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 1.93 MB

english, 2017

79

GZF1 Mutations Expand the Genetic Heterogeneity of Larsen Syndrome

Patel, Nisha, Shamseldin, Hanan E., Sakati, Nadia, Khan, Arif O., Softa, Ameen, Al-Fadhli, Fatima M., Hashem, Mais, Abdulwahab, Firdous M., Alshidi, Tarfa, Alomar, Rana, Alobeid, Eman, Wakil, Salma M.

Journal:

The American Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 2.00 MB

english, 2017

80

One Stage Urethroplasty: Repair of Urethral Strictures with a Free Full Thickness Patch of Skin

Devine, P.C., Sakati, I.A., Poutasse, E.F., Devine, C.J.

Journal:

The Journal of Urology

Year:

1968

Language:

english

File:

PDF, 142 KB

english, 1968

81

Clinical Spectrum of Congenital Adrenal Hyperplasia in Saudi Arabia: A Study of Thirty Patients

Bissada, Nabil K., Sakati, Nadia, Woodhouse, Nicholas

Journal:

The Journal of Urology

Year:

1987

Language:

english

File:

PDF, 48 KB

english, 1987

82

One-Stage Complete Genital Reconstruction for Patients with Congenital Adrenal Hyperplasia

Bissada, Nabil K., Sakati, Nadia, Woodhouse, Nicholas J.Y., Morcos, Rafik R.

Journal:

The Journal of Urology

Year:

1987

Language:

english

File:

PDF, 164 KB

english, 1987

83

Postoperative Fatalities in Urology

Sakati, Isam A., Marshall, Victor F.

Journal:

The Journal of Urology

Year:

1966

Language:

english

File:

PDF, 252 KB

english, 1966

84

DETECTION OF HETEROGENEOUS GROWTH HORMONE (GH) GENE SPLICING BY DNA ANALYSIS OF DRIED BLOOD SPOTS FROM GH DEFICIENT SUBJECTS

Miller-Davis, S, Cogan, J, Phillips, A, Milner, R D G, Ai-Ashwal, A, Sakati, N A

Journal:

Pediatric Research

Year:

1993

Language:

english

File:

PDF, 148 KB

english, 1993

85

Crossed Ectopia of a Solitary Kidney Associated With Anal Atresia

BISSADA, NABIL K., CUMMING, WILLIAM A., SAKATI, NADIA A., HANASH, KAMAL A., RATCLIFFE, JOHN W.

Journal:

Southern Medical Journal

Year:

1986

File:

PDF, 184 KB

1986

86

Inclusion of joint laxity, recurrent patellar dislocation, and short distal ulnae as a feature of Van Den Ende-Gupta syndrome: a case report

Al-Qattan, Mohammad M., Andejani, Doaa F., Sakati, Nadia A., Ramzan, Khushnooda, Imtiaz, Faiqa

Journal:

BMC Medical Genetics

Year:

2018

Language:

english

File:

PDF, 3.27 MB

english, 2018

87

Glutaric Aciduria Type 1: First Reported Cases in Three Saudi Patients

Coates, Robert, Rashed, Mohammed, Rahbeeni, Zuhair, Al-Garawi, Sami, Al-Odaib, Ali N., Sakati, Nadia, Gascon, Generoso, Worthen, Howard, Ozand, Pinar T.

Journal:

Annals of Saudi Medicine

Year:

1994

Language:

english

File:

PDF, 1.25 MB

english, 1994

88

Development of an improved T cell assay to assess the intrinsic immunogenicity of haptenic compounds

Ogese, Monday O, Watkinson, Joel, Lister, Adam, Faulkner, Lee, Gibson, Andrew, Hillegas, Aimee, Sakatis, Melanie Z, Park, B Kevin, Naisbitt, Dean J

Journal:

Toxicological Sciences

Year:

2020

File:

PDF, 2.05 MB

2020

89

The benefit of cultureâindependent methods to detect bacteria and fungi in reâinfected root filled teeth: a pilot study

AlâSakati, H., Kowollik, S., Gabris, S., Balasiu, A., Ommerborn, M., Pfeffer, K., Henrich, B., Raab, W. H.âM.

Journal:

International Endodontic Journal

Year:

2020

File:

PDF, 419 KB

2020

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