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Mutations in the AHI1 Gene, Encoding Jouberin, Cause Joubert Syndrome with Cortical Polymicrogyria

American journal of human genetics, 2004-12, Vol.75 (6), p.979-987

2004

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Distinguishing the four genetic causes of jouberts syndrome-related disorders

Annals of neurology, 2005-04, Vol.57 (4), p.513-519

2005

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Ethylmalonic encephalopathy—report of two cases

Brain & development (Tokyo. 1979), 2006-06, Vol.28 (5), p.329-331

2006

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Distinguishing 3 classes of corpus callosal abnormalities in consanguineous families

Neurology, 2011-01, Vol.76 (4), p.373-382

2011

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Lack of an association between candidate gene loci and idiopathic generalized epilepsy in Kuwaiti Arab children

Journal of biomedical science, 2005-10, Vol.12 (5), p.815-818

2005

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Lactic acidosis and developmental delay due to deficiency of E3 binding protein (protein X) of the pyruvate dehydrogenase complex

Journal of inherited metabolic disease, 2004-01, Vol.27 (4), p.477-485

2004

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Gene Therapy for Duchenne Muscular Dystrophy: Unlocking the Opportunities in Countries in the Middle East and Beyond

Journal of neuromuscular diseases, 2022-01, Vol.9 (6), p.787-801

2022

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Delayed Effects of Transcutaneous Organophosphate Poisoning in Four Children

Child neurology open, 2015-10, Vol.2 (4), p.2329048X15618970-2329048X15618970

2015

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An early onset form of methylenetetrahydrofolate reductase deficiency: a report of a family from Kuwait

Brain & development (Tokyo. 1979), 2002-08, Vol.24 (5), p.304

2002

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RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders

Clinical genetics, 2008-08, Vol.74 (2), p.164-170

2008

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P127 – 1650 Severe PANDAS-like course: a case report

European journal of paediatric neurology, 2013-09, Vol.17, p.S88-S88

2013

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Partial Rhombencephalosynapsis of the Superior Cerebellum Associated with GM1 Gangliosidosis

The neuroradiology journal, 2007-04, Vol.20 (2), p.182-185

2007

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P26 – 2615: Landau Kleffner syndrome following a minor head trauma – Case report

European journal of paediatric neurology, 2015-05, Vol.19, p.S101-S102

2015

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What syndrome is this?

Pediatric dermatology, 2004-03, Vol.21 (2), p.167-170

2004

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Neurocysticercosis in non-endemic Muslim areas: A report of seven cases from Kuwait

Journal of pediatric neurology, 2006-12, Vol.4 (4), p.257-260

2006

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Brain MRI features of merosin-negative congenital muscular dystrophy

Australasian radiology, 2007-12, Vol.51 (s4), p.B221-B223

2007

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What syndrome is this? Autosomal recessive type II cutis laxa

Pediatric dermatology, 2004-03, Vol.21 (2), p.167-170

2004

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P17.10 GLUT-1 deficiency syndrome: Can early treatment with ketogenic diet prevent epileptic encephalopathy?

European journal of paediatric neurology, 2011-05, Vol.15, p.S101-S102

2011

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Autosomal Recessive Type II Cutis Laxa

Pediatric dermatology, 2004-03, Vol.21 (2), p.167-170

2004

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Vertebrobasilar Strokes in Children

Medical principles and practice, 2000, Vol.9 (3), p.186-193

2000

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Expanding CEP290 mutational spectrum in ciliopathies

American journal of medical genetics. Part A, 2009-10, Vol.149A (10), p.2173-2180

2009

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Craniofacial dyssynostosis with cryptorchidism and normal stature

American journal of medical genetics, 1998-08, Vol.79 (1), p.5-7

1998

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An early onset form of methylenetetrahydrofolate reductase deficiency: a report of a family from Kuwait

Brain & development (Tokyo. 1979), 2002-08, Vol.24 (5), p.304-309

2002

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An Epidemiologic, Clinical, and Therapeutic Study of Childhood Guillain-Barré Syndrome in Kuwait: Is It Related to the Oral Polio Vaccine?

Journal of child neurology, 1998-10, Vol.13 (10), p.488-492

1998

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The detrimental impacts of smart technology device overuse among school students in Kuwait: a cross-sectional survey

BMC pediatrics, 2020-11, Vol.20 (1), p.524-12, Article 524

2020

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Mutations in the AHI1 Gene, Encoding Jouberin, Cause Joubert Syndrome with Cortical Polymicrogyria

Distinguishing the four genetic causes of jouberts syndrome-related disorders

Ethylmalonic encephalopathy—report of two cases

Distinguishing 3 classes of corpus callosal abnormalities in consanguineous families

Lack of an association between candidate gene loci and idiopathic generalized epilepsy in Kuwaiti Arab children

Lactic acidosis and developmental delay due to deficiency of E3 binding protein (protein X) of the pyruvate dehydrogenase complex

Gene Therapy for Duchenne Muscular Dystrophy: Unlocking the Opportunities in Countries in the Middle East and Beyond

Delayed Effects of Transcutaneous Organophosphate Poisoning in Four Children

An early onset form of methylenetetrahydrofolate reductase deficiency: a report of a family from Kuwait

RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders

P127 – 1650 Severe PANDAS-like course: a case report

Partial Rhombencephalosynapsis of the Superior Cerebellum Associated with GM1 Gangliosidosis

P26 – 2615: Landau Kleffner syndrome following a minor head trauma – Case report

What syndrome is this?

Neurocysticercosis in non-endemic Muslim areas: A report of seven cases from Kuwait

Brain MRI features of merosin-negative congenital muscular dystrophy

What syndrome is this? Autosomal recessive type II cutis laxa

P17.10 GLUT-1 deficiency syndrome: Can early treatment with ketogenic diet prevent epileptic encephalopathy?

Autosomal Recessive Type II Cutis Laxa

Vertebrobasilar Strokes in Children

Expanding CEP290 mutational spectrum in ciliopathies

Craniofacial dyssynostosis with cryptorchidism and normal stature

An early onset form of methylenetetrahydrofolate reductase deficiency: a report of a family from Kuwait

An Epidemiologic, Clinical, and Therapeutic Study of Childhood Guillain-Barré Syndrome in Kuwait: Is It Related to the Oral Polio Vaccine?

The detrimental impacts of smart technology device overuse among school students in Kuwait: a cross-sectional survey

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