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Mohammed Almannai

Showing results (21-30 of 56) with videos related to

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International Journal of Pediatrics & Adolescent Medicine|August 17, 2021
Clinical and molecular characteristics of primary ciliary dyskinesia: A tertiary care centre experienceMohammed Alzaid, Khalid Al-Mobaireek, Mohammed Almannai, et al.
Molecular Genetics and Metabolism Reports|March 4, 2022
Uridine monophosphate (UMP)-responsive developmental and epileptic encephalopathy: A case report of two siblings and a review of literatureAli Al-Otaibi, Alaa AlAyed, Asma Al Madhi, et al.
American Journal of Medical Genetics. Part A|February 19, 2020
Further delineation of METTL23-associated intellectual disabilityMohammed Almannai, Osama Obaid, Eissa Faqeih, et al.
Human Genetics|December 23, 2022
KIF26A is mutated in the syndrome of congenital hydrocephalus with megacolonMohammed Almannai, Lama AlAbdi, Sateesh Maddirevula, et al.
Molecular Genetics and Metabolism Reports|December 11, 2023
A child with dilated cardiomyopathy and homozygous splice site variant in <i>FLNC</i> geneAfaf Alsubhi, Manar Aldarwish, Pankaj B Agrawal, et al.
Molecular Genetics and Metabolism|February 7, 2016
Impaired nitric oxide production in children with MELAS syndrome and the effect of arginine and citrulline supplementationAyman W El-Hattab, Lisa T Emrick, Jean W Hsu, et al.
Clinical Genetics|March 1, 2022
A homozygous frame-shift variant in PROSER1 is associated with developmental delay, hypotonia, genitourinary malformations, and distinctive facial featuresAzza Salah, Mohammed Almannai, Mode Al Ojaimi, et al.
Molecular Genetics and Metabolism|July 12, 2017
Milder clinical and biochemical phenotypes associated with the c.482G>A (p.Arg161Gln) pathogenic variant in cobalamin C disease: Implications for management and screeningMohammed Almannai, Ronit Marom, Kristian Divin, et al.
European Journal of Pediatrics|May 4, 2023
Correction to: Aromatic L-amino acid decarboxylase deficiency in countries in the Middle East: a case series and literature reviewMusaad Abukhaled, Mohammed Al Muqbil, Malak Ali Alghamdi, et al.
European Journal of Pediatrics|March 17, 2023
Aromatic L-amino acid decarboxylase deficiency in countries in the Middle East: a case series and literature reviewMusaad Abukhaled, Mohammed Al Muqbil, Malak Ali Alghamdi, et al.
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Showing results (21-30 of 56) with videos related to

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Pageof 6
International Journal of Pediatrics & Adolescent Medicine|August 17, 2021
Clinical and molecular characteristics of primary ciliary dyskinesia: A tertiary care centre experienceMohammed Alzaid, Khalid Al-Mobaireek, Mohammed Almannai, et al.
Molecular Genetics and Metabolism Reports|March 4, 2022
Uridine monophosphate (UMP)-responsive developmental and epileptic encephalopathy: A case report of two siblings and a review of literatureAli Al-Otaibi, Alaa AlAyed, Asma Al Madhi, et al.
American Journal of Medical Genetics. Part A|February 19, 2020
Further delineation of METTL23-associated intellectual disabilityMohammed Almannai, Osama Obaid, Eissa Faqeih, et al.
Human Genetics|December 23, 2022
KIF26A is mutated in the syndrome of congenital hydrocephalus with megacolonMohammed Almannai, Lama AlAbdi, Sateesh Maddirevula, et al.
Molecular Genetics and Metabolism Reports|December 11, 2023
A child with dilated cardiomyopathy and homozygous splice site variant in <i>FLNC</i> geneAfaf Alsubhi, Manar Aldarwish, Pankaj B Agrawal, et al.
Molecular Genetics and Metabolism|February 7, 2016
Impaired nitric oxide production in children with MELAS syndrome and the effect of arginine and citrulline supplementationAyman W El-Hattab, Lisa T Emrick, Jean W Hsu, et al.
Clinical Genetics|March 1, 2022
A homozygous frame-shift variant in PROSER1 is associated with developmental delay, hypotonia, genitourinary malformations, and distinctive facial featuresAzza Salah, Mohammed Almannai, Mode Al Ojaimi, et al.
Molecular Genetics and Metabolism|July 12, 2017
Milder clinical and biochemical phenotypes associated with the c.482G>A (p.Arg161Gln) pathogenic variant in cobalamin C disease: Implications for management and screeningMohammed Almannai, Ronit Marom, Kristian Divin, et al.
European Journal of Pediatrics|May 4, 2023
Correction to: Aromatic L-amino acid decarboxylase deficiency in countries in the Middle East: a case series and literature reviewMusaad Abukhaled, Mohammed Al Muqbil, Malak Ali Alghamdi, et al.
European Journal of Pediatrics|March 17, 2023
Aromatic L-amino acid decarboxylase deficiency in countries in the Middle East: a case series and literature reviewMusaad Abukhaled, Mohammed Al Muqbil, Malak Ali Alghamdi, et al.
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