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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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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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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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Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders

European journal of human genetics : EJHG, 2013-10, Vol.21 (10), p.1074-1078

2013

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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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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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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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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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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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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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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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Autosomal Recessive Type II Cutis Laxa

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

2004

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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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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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Vertebrobasilar Strokes in Children

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

2000

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What syndrome is this?

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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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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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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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

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

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

Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders

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

Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies

Delayed Effects of Transcutaneous Organophosphate Poisoning in Four Children

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

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

Partial Rhombencephalosynapsis of the Superior Cerebellum Associated with GM1 Gangliosidosis

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

What syndrome is this? Autosomal recessive type II cutis laxa

Autosomal Recessive Type II Cutis Laxa

Brain MRI features of merosin-negative congenital muscular dystrophy

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

Vertebrobasilar Strokes in Children

What syndrome is this?

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

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

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

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