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Postnatal microcephaly and pain insensitivity due to a de novo heterozygous DNM1L mutation causing impaired mitochondrial fission and function

American journal of medical genetics. Part A, 2016-06, Vol.170A (6), p.1603-1607

2016

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Bezafibrate Improves Mitochondrial Fission and Function in DNM1L-Deficient Patient Cells

Cells (Basel, Switzerland), 2020-01, Vol.9 (2), p.301

2020

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TRPM1 Mutations are the Most Common Cause of Autosomal Recessive Congenital Stationary Night Blindness (CSNB) in the Palestinian and Israeli Populations

Scientific reports, 2019-08, Vol.9 (1), p.12047-6, Article 12047

2019

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KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations

European journal of human genetics : EJHG, 2012-06, Vol.20 (6), p.645-649

2012

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Quantitative measurement of urinary glycosaminoglycans using a modified DMB method facilitates the diagnosis and monitoring of mucopolysaccharidoses

Journal of pediatric biochemistry, 2016-08, Vol.2 (3), p.163-167

2016

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De novo pathogenic DNM1L variant in a patient diagnosed with atypical hereditary sensory and autonomic neuropathy

Molecular genetics & genomic medicine, 2019-10, Vol.7 (10), p.e00961-n/a

2019

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Early-onset sensorineural hearing loss is a prominent feature of H syndrome

International journal of pediatric otorhinolaryngology, 2010-07, Vol.74 (7), p.825-827

2010

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Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

Human mutation, 2020-01, Vol.41 (1), p.299-315

2020

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Role of a conserved glutamine in the function of voltage-gated Ca2+ channels revealed by a mutation in human CACNA1D

The Journal of biological chemistry, 2018-09, Vol.293 (37), p.14444-14454

2018

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Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state

Journal of medical genetics, 2022-06, Vol.59 (6), p.549-553

2022

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Mechanistic insights into the cellular effects of a novel FN1 variant associated with a spondylometaphyseal dysplasia

Clinical genetics, 2018-11, Vol.94 (5), p.429-437

2018

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Relatively mild blue cone monochromacy phenotype caused by various haplotypes in the L- and M-cone opsin genes

Molecular vision, 2022, Vol.28, p.21-28

2022

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Fe/S protein assembly gene IBA57 mutation causes hereditary spastic paraplegia

Neurology, 2015-02, Vol.84 (7), p.659-667

2015

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Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability

American journal of human genetics, 2024-03, Vol.111 (3), p.509-528

2024

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Biallelic variants in AGTPBP1, involved in tubulin deglutamylation, are associated with cerebellar degeneration and motor neuropathy

European journal of human genetics : EJHG, 2019-09, Vol.27 (9), p.1419-1426

2019

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Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder

American journal of human genetics, 2022-02, Vol.109 (2), p.361-372

2022

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Semidominant Inheritance in Epidermolytic Ichthyosis

Journal of investigative dermatology, 2013-11, Vol.133 (11), p.2626-2628

2013

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Clinical spectrum of individuals with pathogenic N F1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

Human mutation, 2020-01, Vol.41 (1), p.299-315

2020

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Role of a conserved glutamine in the function of voltage-gated Ca 2+ channels revealed by a mutation in human CACNA1D

The Journal of biological chemistry, 2018-09, Vol.293 (37), p.14444

2018

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Hindbrain malformation and myoclonic seizures associated with a deleterious mutation in the INPP4A gene

Neurogenetics, 2015-01, Vol.16 (1), p.23-26

2015

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Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening

Human genetics, 2003-12, Vol.114 (1), p.68-76

2003

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Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I)

American journal of human genetics, 1993-03, Vol.52 (3), p.455-462

1993

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Concrete and formal arguments : the case of division by zero

Mathematics education research journal, 2000-09, Vol.12 (2), p.92-106

2000

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Duodenal web in the syndrome of osteopathia striata with cranial sclerosis

Clinical genetics, 1996-06, Vol.49 (6), p.329-330

1996

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Postnatal microcephaly and pain insensitivity due to a de novo heterozygous DNM1L mutation causing impaired mitochondrial fission and function

Bezafibrate Improves Mitochondrial Fission and Function in DNM1L-Deficient Patient Cells

Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability

TRPM1 Mutations are the Most Common Cause of Autosomal Recessive Congenital Stationary Night Blindness (CSNB) in the Palestinian and Israeli Populations

KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations

Quantitative measurement of urinary glycosaminoglycans using a modified DMB method facilitates the diagnosis and monitoring of mucopolysaccharidoses

De novo pathogenic DNM1L variant in a patient diagnosed with atypical hereditary sensory and autonomic neuropathy

Early-onset sensorineural hearing loss is a prominent feature of H syndrome

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

Role of a conserved glutamine in the function of voltage-gated Ca2+ channels revealed by a mutation in human CACNA1D

Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state

Mechanistic insights into the cellular effects of a novel FN1 variant associated with a spondylometaphyseal dysplasia

Relatively mild blue cone monochromacy phenotype caused by various haplotypes in the L- and M-cone opsin genes

Fe/S protein assembly gene IBA57 mutation causes hereditary spastic paraplegia

Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability

Biallelic variants in AGTPBP1, involved in tubulin deglutamylation, are associated with cerebellar degeneration and motor neuropathy

Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder

Semidominant Inheritance in Epidermolytic Ichthyosis

Clinical spectrum of individuals with pathogenic N F1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

Role of a conserved glutamine in the function of voltage-gated Ca 2+ channels revealed by a mutation in human CACNA1D

Hindbrain malformation and myoclonic seizures associated with a deleterious mutation in the INPP4A gene

Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening

Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I)

Concrete and formal arguments : the case of division by zero

Duodenal web in the syndrome of osteopathia striata with cranial sclerosis

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