Search Results - "Mohamoud, Hussein Sheikh Ali" :: K.UTB vyhledávací portál | TBU Library Retrieval Portal

Induced pluripotent stem cell modelling of HLHS underlines the contribution of dysfunctional NOTCH signalling to impaired cardiogenesis

Induced pluripotent stem cell modelling of HLHS underlines the contribution of dysfunctional NOTCH signalling to impaired cardiogenesis

by Yang, Chunbo, Xu, Yaobo, Yu, Min, Lee, David, Alharti, Sameer, Hellen, Nicola, Ahmad Shaik, Noor, Banaganapalli, Babajan, Sheikh Ali Mohamoud, Hussein, Elango, Ramu, Przyborski, Stefan, Tenin, Gennadiy, Williams, Simon, O'Sullivan, John, Al-Radi, Osman O, Atta, Jameel, Harding, Sian E, Keavney, Bernard, Lako, Majlinda, Armstrong, Lyle
Published in Human molecular genetics (15.08.2017)

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Journal Article

Detection of genetic alterations in gastric cancer patients from Saudi Arabia using comparative genomic hybridization (CGH)

Detection of genetic alterations in gastric cancer patients from Saudi Arabia using comparative genomic hybridization (CGH)

by Bibi, Fehmida, Ali, Isse, Naseer, Muhammad Imran, Ali Mohamoud, Hussein Sheikh, Yasir, Muhammad, Alvi, Sana Akhtar, Jiman-Fatani, Asif Ahmed, Sawan, Ali, Azhar, Esam Ibraheem
Published in PloS one (13.09.2018)

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Journal Article

A Novel Missense Mutation in the CLPP Gene Causing Perrault Syndrome Type 3 in a Turkish Family

A Novel Missense Mutation in the CLPP Gene Causing Perrault Syndrome Type 3 in a Turkish Family

by Dursun, Fatma, Mohamoud, Hussein Sheikh Ali, Karim, Noreen, Naeem, Muhammad, Jelani, Musharraf, Kırmızıbekmez, Heves
Published in Journal of clinical research in pediatric endocrinology (01.12.2016)

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Journal Article

A novel homozygous PTH1R variant identified through whole-exome sequencing further expands the clinical spectrum of primary failure of tooth eruption in a consanguineous Saudi family

A novel homozygous PTH1R variant identified through whole-exome sequencing further expands the clinical spectrum of primary failure of tooth eruption in a consanguineous Saudi family

by Jelani, Musharraf, Kang, Changsoo, Mohamoud, Hussein Sheikh Ali, Al-Rehaili, Rayan, Almramhi, Mona Mohammad, Serafi, Rehab, Yang, Huanming, Al-Aama, Jumana Yousuf, Naeem, Muhammad, Alkhiary, Yaser Mohammad
Published in Archives of oral biology (01.07.2016)

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Journal Article

First Comprehensive In Silico Analysis of the Functional and Structural Consequences of SNPs in Human GalNAc-T1 Gene

First Comprehensive In Silico Analysis of the Functional and Structural Consequences of SNPs in Human GalNAc-T1 Gene

by Ali Mohamoud, Hussein Sheikh, Manwar Hussain, Muhammad Ramzan, El-Harouni, Ashraf A., Shaik, Noor Ahmad, Qasmi, Zaheer Ulhaq, Merican, Amir Feisal, Baig, Mukhtiar, Anwar, Yasir, Asfour, Hani, Bundajji, Nabil S., al-Aama, Jumana Yousuf
Published in Computational and mathematical methods in medicine (01.01.2014)

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Journal Article

Whole-exome sequencing reveals a recurrent mutation in the cathepsin C gene that causes Papillon–Lefevre syndrome in a Saudi family

Whole-exome sequencing reveals a recurrent mutation in the cathepsin C gene that causes Papillon–Lefevre syndrome in a Saudi family

by Alkhiary, Yaser Mohammad, Jelani, Musharraf, Almramhi, Mona Mohammad, Mohamoud, Hussein Sheikh Ali, Al-Rehaili, Rayan, Al-Zahrani, Hams Saeed, Serafi, Rehab, Yang, Huanming, Al-Aama, Jumana Yousuf
Published in Saudi journal of biological sciences (01.09.2016)

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Journal Article

From genes to health - challenges and opportunities

From genes to health - challenges and opportunities

by Manwar Hussain, Muhammad Ramzan, Khan, Asifullah, Ali Mohamoud, Hussein Sheikh
Published in Frontiers in pediatrics (01.01.2014)

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Journal Article

A mutation in the major autophagy gene, WIPI2, associated with global developmental abnormalities

A mutation in the major autophagy gene, WIPI2, associated with global developmental abnormalities

by Jelani, Musharraf, Dooley, Hannah C., Gubas, Andrea, Mohamoud, Hussein Sheikh Ali, Khan, Muhammad Tariq Masood, Ali, Zahir, Kang, Changsoo, Rahim, Fazal, Jan, Amin, Vadgama, Nirmal, Khan, Muhammad Ismail, Al-Aama, Jumana Yousuf, Khan, Asifullah, Tooze, Sharon A, Nasir, Jamal
Published in Brain (London, England : 1878) (01.05.2019)

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Journal Article

Exome analysis identified a novel missense mutation in the CLPP gene in a consanguineous Saudi family expanding the clinical spectrum of Perrault Syndrome type-3

Exome analysis identified a novel missense mutation in the CLPP gene in a consanguineous Saudi family expanding the clinical spectrum of Perrault Syndrome type-3

by Ahmed, Saleem, Jelani, Musharraf, Alrayes, Nuha, Mohamoud, Hussein Sheikh Ali, Almramhi, Mona Mohammad, Anshasi, Wasim, Ahmed, Naushad Ali Basheer, Wang, Jun, Nasir, Jamal, Al-Aama, Jumana Yousuf
Published in Journal of the neurological sciences (15.06.2015)

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Journal Article

Novel nonsense mutation in the PTRF gene underlies congenital generalized lipodystrophy in a consanguineous Saudi family

Novel nonsense mutation in the PTRF gene underlies congenital generalized lipodystrophy in a consanguineous Saudi family

by Jelani, Musharraf, Ahmed, Saleem, Almramhi, Mona Mohammad, Mohamoud, Hussein Sheikh Ali, Bakur, Khadijah, Anshasi, Waseem, Wang, Jun, Al-Aama, Jumana Yousuf
Published in European journal of medical genetics (01.04.2015)

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Journal Article

Whole exome sequencing reveals a homozygous SGCB variant in a Pakhtun family with limb girdle muscular dystrophy (LGMDR4) phenotype

Whole exome sequencing reveals a homozygous SGCB variant in a Pakhtun family with limb girdle muscular dystrophy (LGMDR4) phenotype

by Tariq, Muhammad, Latif, Muhammad, Inam, Memona, Jan, Amin, Bibi, Nousheen, Mohamoud, Hussein Sheikh Ali, Ali, Isse, Ahmad, Habib, Khan, Aziz, Nasir, Jamal, Wadood, Abdul, Jelani, Musharraf
Published in Gene reports (01.03.2021)

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Journal Article

Truncating mutation in intracellular phospholipase A₁ gene (DDHD2) in hereditary spastic paraplegia with intellectual disability (SPG54)

Truncating mutation in intracellular phospholipase A₁ gene (DDHD2) in hereditary spastic paraplegia with intellectual disability (SPG54)

by Alrayes, Nuha, Mohamoud, Hussein Sheikh Ali, Jelani, Musharraf, Ahmad, Saleem, Vadgama, Nirmal, Bakur, Khadijah, Simpson, Michael, Al-Aama, Jumana Yousuf, Nasir, Jamal
Published in BMC research notes (27.06.2015)

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Journal Article

Truncating mutation in intracellular phospholipase A1 gene

Truncating mutation in intracellular phospholipase A1 gene

by Alrayes, Nuha, Mohamoud, Hussein Sheikh Ali, Jelani, Musharraf, Ahmad, Saleem, Vadgama, Nirmal, Bakur, Khadijah, Simpson, Michael, Al-Aama, Jumana Yousuf, Nasir, Jamal
Published in BMC research notes (27.06.2015)

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Journal Article

The alkylglycerol monooxygenase ( AGMO ) gene previously involved in autism also causes a novel syndromic form of primary microcephaly in a consanguineous Saudi family

The alkylglycerol monooxygenase ( AGMO ) gene previously involved in autism also causes a novel syndromic form of primary microcephaly in a consanguineous Saudi family

by Alrayes, Nuha, Mohamoud, Hussein Sheikh Ali, Ahmed, Saleem, Almramhi, Mona Mohammad, Shuaib, Taghreed Mohammad, Wang, Jun, Al-Aama, Jumana Yousuf, Everett, Kate, Nasir, Jamal, Jelani, Musharraf
Published in Journal of the neurological sciences (15.04.2016)

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Journal Article

The Microbial Pathology of Neu5Ac and Gal Epitopes

The Microbial Pathology of Neu5Ac and Gal Epitopes

by Hussain, Muhammad Ramzan Manwar, Asfour, Hani, Yasir, Muhammad, Khan, Asifullah, Mohamoud, Hussein Sheikh Ali, Al-Aama, Jumana Y.
Published in Journal of carbohydrate chemistry (24.03.2013)

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Journal Article

P2: Finetuning of the genotype-phenotype correlation in Cri du Chat syndrome using array CGH

P2: Finetuning of the genotype-phenotype correlation in Cri du Chat syndrome using array CGH

by Mul, Adri, Man, Hai-Yen, Mathijssen, Inge B., Nannenberg, Eline A., Mohamoud, Hussein Sheikh Ali, Winter, Roos E., Cobben, Jan Maarten, Hoovers, Jan M.
Published in European journal of medical genetics (01.10.2005)

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Journal Article

An identification and prediction methods for feature-subsets of CpG islands methylation based on human peripheral blood leukocytes of chromosome 21q

An identification and prediction methods for feature-subsets of CpG islands methylation based on human peripheral blood leukocytes of chromosome 21q

by Ali, I., Mohamoud, H. S. A.
Published in 2011 Annual International Conference of the IEEE Engineering in Medicine and Biology Society (01.01.2011)

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Conference Proceeding Journal Article