Adv Neurobiol
New Horizons for Molecular Genetics Diagnostic and Research in Autism Spectrum Disorder.
Al-Dewik N, Alsharshani M
Autism spectrum disorder (ASD) is a highly heritable, heterogeneous, and complex pervasive neurodevelopmental disorder (PND) characterized by distinct ...
Read More
Source: PubMed
BMC Med Genomics
A case report of a mild form of multiple acyl-CoA dehydrogenase deficiency due to compound heterozygous mutations in the ETFA gene.
Chautard R, Laroche-Raynaud C, Lia AS, Chazelas P, Derouault P, Sturtz F, Baaj Y, Veauville-Merllié A, Acquaviva C, Favreau F, Faye PA
Multiple acyl-CoA dehydrogenase deficiency (MADD), previously called glutaric aciduria type II, is a rare congenital metabolic disorder of fatty acids ...
Read More
Source: PubMed
Mol Genet Genomic Med 2020 Jan 28
Chromosome 15q BP3 to BP5 deletion is a likely locus for speech delay and language impairment: Report on a four-member family and an unrelated boy.
Pavone P, Ruggieri M, Marino SD, Corsello G, Pappalardo X, Polizzi A, Parano E, Romano C, Marino S, Praticò AD, Falsaperla R
Deletions in chromosome 15q13 have been reported both in healthy people and individuals with a wide range of behavioral and neuropsychiatric disturban ...
Read More
Source: PubMed
Autism Res 2020 Jan 21
Generation of a Novel Rat Model of Angelman Syndrome with a Complete Ube3a Gene Deletion.
Dodge A, Peters MM, Greene HE, Dietrick C, Botelho R, Chung D, Willman J, Nenninger AW, Ciarlone S, Kamath SG, Houdek P, Sumová A, Anderson AE, Dindot SV, Berg EL, O'Geen H, Segal DJ, Silverman JL, Weeber EJ, Nash KR
Angelman syndrome (AS) is a rare genetic disorder characterized by severe intellectual disability, seizures, lack of speech, and ataxia. The gene resp ...
Read More
Source: PubMed
Mol Genet Genomic Med 2020 Jan 13
Atypical Rett syndrome in a girl with mosaic triple X and MECP2 variant.
Takahashi S, Takeguchi R, Kuroda M, Tanaka R
Rett syndrome (RTT) is a neurodevelopmental disorder that predominantly affects girls, resulting from a loss-of-function variant in X-linked MECP2. He ...
Read More
Source: PubMed
Adv Neurobiol
New Horizons for Molecular Genetics Diagnostic and Research in Autism Spectrum Disorder.
Al-Dewik N, Alsharshani M
Autism spectrum disorder (ASD) is a highly heritable, heterogeneous, and complex pervasive neurodevelopmental disorder (PND) characterized by distinct ...
Read More
Source: PubMed
BMC Med Genomics
A case report of a mild form of multiple acyl-CoA dehydrogenase deficiency due to compound heterozygous mutations in the ETFA gene.
Chautard R, Laroche-Raynaud C, Lia AS, Chazelas P, Derouault P, Sturtz F, Baaj Y, Veauville-Merllié A, Acquaviva C, Favreau F, Faye PA
Multiple acyl-CoA dehydrogenase deficiency (MADD), previously called glutaric aciduria type II, is a rare congenital metabolic disorder of fatty acids ...
Read More
Source: PubMed
Mol Genet Genomic Med 2020 Jan 28
Chromosome 15q BP3 to BP5 deletion is a likely locus for speech delay and language impairment: Report on a four-member family and an unrelated boy.
Pavone P, Ruggieri M, Marino SD, Corsello G, Pappalardo X, Polizzi A, Parano E, Romano C, Marino S, Praticò AD, Falsaperla R
Deletions in chromosome 15q13 have been reported both in healthy people and individuals with a wide range of behavioral and neuropsychiatric disturban ...
Read More
Source: PubMed
Autism Res 2020 Jan 21
Generation of a Novel Rat Model of Angelman Syndrome with a Complete Ube3a Gene Deletion.
Dodge A, Peters MM, Greene HE, Dietrick C, Botelho R, Chung D, Willman J, Nenninger AW, Ciarlone S, Kamath SG, Houdek P, Sumová A, Anderson AE, Dindot SV, Berg EL, O'Geen H, Segal DJ, Silverman JL, Weeber EJ, Nash KR
Angelman syndrome (AS) is a rare genetic disorder characterized by severe intellectual disability, seizures, lack of speech, and ataxia. The gene resp ...
Read More
Source: PubMed
Mol Genet Genomic Med 2020 Jan 13
Atypical Rett syndrome in a girl with mosaic triple X and MECP2 variant.
Takahashi S, Takeguchi R, Kuroda M, Tanaka R
Rett syndrome (RTT) is a neurodevelopmental disorder that predominantly affects girls, resulting from a loss-of-function variant in X-linked MECP2. He ...
Read More
Source: PubMed
Adv Neurobiol
New Horizons for Molecular Genetics Diagnostic and Research in Autism Spectrum Disorder.
Al-Dewik N, Alsharshani M
Autism spectrum disorder (ASD) is a highly heritable, heterogeneous, and complex pervasive neurodevelopmental disorder (PND) characterized by distinct ...
Read More
Source: PubMed
BMC Med Genomics
A case report of a mild form of multiple acyl-CoA dehydrogenase deficiency due to compound heterozygous mutations in the ETFA gene.
Chautard R, Laroche-Raynaud C, Lia AS, Chazelas P, Derouault P, Sturtz F, Baaj Y, Veauville-Merllié A, Acquaviva C, Favreau F, Faye PA
Multiple acyl-CoA dehydrogenase deficiency (MADD), previously called glutaric aciduria type II, is a rare congenital metabolic disorder of fatty acids ...
Read More
Source: PubMed
Mol Genet Genomic Med 2020 Jan 28
Chromosome 15q BP3 to BP5 deletion is a likely locus for speech delay and language impairment: Report on a four-member family and an unrelated boy.
Pavone P, Ruggieri M, Marino SD, Corsello G, Pappalardo X, Polizzi A, Parano E, Romano C, Marino S, Praticò AD, Falsaperla R
Deletions in chromosome 15q13 have been reported both in healthy people and individuals with a wide range of behavioral and neuropsychiatric disturban ...
Read More
Source: PubMed
Adv Neurobiol
New Horizons for Molecular Genetics Diagnostic and Research in Autism Spectrum Disorder.
Al-Dewik N, Alsharshani M
Autism spectrum disorder (ASD) is a highly heritable, heterogeneous, and complex pervasive neurodevelopmental disorder (PND) characterized by distinct ...
Read More
Source: PubMed
Autism Res 2020 Jan 21
Generation of a Novel Rat Model of Angelman Syndrome with a Complete Ube3a Gene Deletion.
Dodge A, Peters MM, Greene HE, Dietrick C, Botelho R, Chung D, Willman J, Nenninger AW, Ciarlone S, Kamath SG, Houdek P, Sumová A, Anderson AE, Dindot SV, Berg EL, O'Geen H, Segal DJ, Silverman JL, Weeber EJ, Nash KR
Angelman syndrome (AS) is a rare genetic disorder characterized by severe intellectual disability, seizures, lack of speech, and ataxia. The gene resp ...
Read More
Source: PubMed
BMC Med Genomics
A case report of a mild form of multiple acyl-CoA dehydrogenase deficiency due to compound heterozygous mutations in the ETFA gene.
Chautard R, Laroche-Raynaud C, Lia AS, Chazelas P, Derouault P, Sturtz F, Baaj Y, Veauville-Merllié A, Acquaviva C, Favreau F, Faye PA
Multiple acyl-CoA dehydrogenase deficiency (MADD), previously called glutaric aciduria type II, is a rare congenital metabolic disorder of fatty acids ...
Read More
Source: PubMed
Mol Genet Genomic Med 2020 Jan 13
Atypical Rett syndrome in a girl with mosaic triple X and MECP2 variant.
Takahashi S, Takeguchi R, Kuroda M, Tanaka R
Rett syndrome (RTT) is a neurodevelopmental disorder that predominantly affects girls, resulting from a loss-of-function variant in X-linked MECP2. He ...
Read More
Source: PubMed
Mol Genet Genomic Med 2020 Jan 28
Chromosome 15q BP3 to BP5 deletion is a likely locus for speech delay and language impairment: Report on a four-member family and an unrelated boy.
Pavone P, Ruggieri M, Marino SD, Corsello G, Pappalardo X, Polizzi A, Parano E, Romano C, Marino S, Praticò AD, Falsaperla R
Deletions in chromosome 15q13 have been reported both in healthy people and individuals with a wide range of behavioral and neuropsychiatric disturban ...
Read More
Source: PubMed
Autism Res 2020 Jan 21
Generation of a Novel Rat Model of Angelman Syndrome with a Complete Ube3a Gene Deletion.
Dodge A, Peters MM, Greene HE, Dietrick C, Botelho R, Chung D, Willman J, Nenninger AW, Ciarlone S, Kamath SG, Houdek P, Sumová A, Anderson AE, Dindot SV, Berg EL, O'Geen H, Segal DJ, Silverman JL, Weeber EJ, Nash KR
Angelman syndrome (AS) is a rare genetic disorder characterized by severe intellectual disability, seizures, lack of speech, and ataxia. The gene resp ...
Read More
Source: PubMed
Mol Genet Genomic Med 2020 Jan 13
Atypical Rett syndrome in a girl with mosaic triple X and MECP2 variant.
Takahashi S, Takeguchi R, Kuroda M, Tanaka R
Rett syndrome (RTT) is a neurodevelopmental disorder that predominantly affects girls, resulting from a loss-of-function variant in X-linked MECP2. He ...
Read More
Source: PubMed
Adv Neurobiol
New Horizons for Molecular Genetics Diagnostic and Research in Autism Spectrum Disorder.
Al-Dewik N, Alsharshani M
Autism spectrum disorder (ASD) is a highly heritable, heterogeneous, and complex pervasive neurodevelopmental disorder (PND) characterized by distinct ...
Read More
Source: PubMed
BMC Med Genomics
A case report of a mild form of multiple acyl-CoA dehydrogenase deficiency due to compound heterozygous mutations in the ETFA gene.
Chautard R, Laroche-Raynaud C, Lia AS, Chazelas P, Derouault P, Sturtz F, Baaj Y, Veauville-Merllié A, Acquaviva C, Favreau F, Faye PA
Multiple acyl-CoA dehydrogenase deficiency (MADD), previously called glutaric aciduria type II, is a rare congenital metabolic disorder of fatty acids ...
Read More
Source: PubMed
Mol Genet Genomic Med 2020 Jan 28
Chromosome 15q BP3 to BP5 deletion is a likely locus for speech delay and language impairment: Report on a four-member family and an unrelated boy.
Pavone P, Ruggieri M, Marino SD, Corsello G, Pappalardo X, Polizzi A, Parano E, Romano C, Marino S, Praticò AD, Falsaperla R
Deletions in chromosome 15q13 have been reported both in healthy people and individuals with a wide range of behavioral and neuropsychiatric disturban ...
Read More
Source: PubMed
Autism Res 2020 Jan 21
Generation of a Novel Rat Model of Angelman Syndrome with a Complete Ube3a Gene Deletion.
Dodge A, Peters MM, Greene HE, Dietrick C, Botelho R, Chung D, Willman J, Nenninger AW, Ciarlone S, Kamath SG, Houdek P, Sumová A, Anderson AE, Dindot SV, Berg EL, O'Geen H, Segal DJ, Silverman JL, Weeber EJ, Nash KR
Angelman syndrome (AS) is a rare genetic disorder characterized by severe intellectual disability, seizures, lack of speech, and ataxia. The gene resp ...
Read More
Source: PubMed
Mol Genet Genomic Med 2020 Jan 13
Atypical Rett syndrome in a girl with mosaic triple X and MECP2 variant.
Takahashi S, Takeguchi R, Kuroda M, Tanaka R
Rett syndrome (RTT) is a neurodevelopmental disorder that predominantly affects girls, resulting from a loss-of-function variant in X-linked MECP2. He ...
Read More
Source: PubMed
Adv Neurobiol
New Horizons for Molecular Genetics Diagnostic and Research in Autism Spectrum Disorder.
Al-Dewik N, Alsharshani M
Autism spectrum disorder (ASD) is a highly heritable, heterogeneous, and complex pervasive neurodevelopmental disorder (PND) characterized by distinct ...
Read More
Source: PubMed
BMC Med Genomics
A case report of a mild form of multiple acyl-CoA dehydrogenase deficiency due to compound heterozygous mutations in the ETFA gene.
Chautard R, Laroche-Raynaud C, Lia AS, Chazelas P, Derouault P, Sturtz F, Baaj Y, Veauville-Merllié A, Acquaviva C, Favreau F, Faye PA
Multiple acyl-CoA dehydrogenase deficiency (MADD), previously called glutaric aciduria type II, is a rare congenital metabolic disorder of fatty acids ...
Read More
Source: PubMed
Mol Genet Genomic Med 2020 Jan 28
Chromosome 15q BP3 to BP5 deletion is a likely locus for speech delay and language impairment: Report on a four-member family and an unrelated boy.
Pavone P, Ruggieri M, Marino SD, Corsello G, Pappalardo X, Polizzi A, Parano E, Romano C, Marino S, Praticò AD, Falsaperla R
Deletions in chromosome 15q13 have been reported both in healthy people and individuals with a wide range of behavioral and neuropsychiatric disturban ...
Read More
Source: PubMed
Autism Res 2020 Jan 21
Generation of a Novel Rat Model of Angelman Syndrome with a Complete Ube3a Gene Deletion.
Dodge A, Peters MM, Greene HE, Dietrick C, Botelho R, Chung D, Willman J, Nenninger AW, Ciarlone S, Kamath SG, Houdek P, Sumová A, Anderson AE, Dindot SV, Berg EL, O'Geen H, Segal DJ, Silverman JL, Weeber EJ, Nash KR
Angelman syndrome (AS) is a rare genetic disorder characterized by severe intellectual disability, seizures, lack of speech, and ataxia. The gene resp ...
Read More
Source: PubMed
Mol Genet Genomic Med 2020 Jan 13
Atypical Rett syndrome in a girl with mosaic triple X and MECP2 variant.
Takahashi S, Takeguchi R, Kuroda M, Tanaka R
Rett syndrome (RTT) is a neurodevelopmental disorder that predominantly affects girls, resulting from a loss-of-function variant in X-linked MECP2. He ...
Read More
Source: PubMed
Adv Neurobiol
New Horizons for Molecular Genetics Diagnostic and Research in Autism Spectrum Disorder.
Al-Dewik N, Alsharshani M
Autism spectrum disorder (ASD) is a highly heritable, heterogeneous, and complex pervasive neurodevelopmental disorder (PND) characterized by distinct ...
Read More
Source: PubMed
BMC Med Genomics
A case report of a mild form of multiple acyl-CoA dehydrogenase deficiency due to compound heterozygous mutations in the ETFA gene.
Chautard R, Laroche-Raynaud C, Lia AS, Chazelas P, Derouault P, Sturtz F, Baaj Y, Veauville-Merllié A, Acquaviva C, Favreau F, Faye PA
Multiple acyl-CoA dehydrogenase deficiency (MADD), previously called glutaric aciduria type II, is a rare congenital metabolic disorder of fatty acids ...
Read More
Source: PubMed
Mol Genet Genomic Med 2020 Jan 28
Chromosome 15q BP3 to BP5 deletion is a likely locus for speech delay and language impairment: Report on a four-member family and an unrelated boy.
Pavone P, Ruggieri M, Marino SD, Corsello G, Pappalardo X, Polizzi A, Parano E, Romano C, Marino S, Praticò AD, Falsaperla R
Deletions in chromosome 15q13 have been reported both in healthy people and individuals with a wide range of behavioral and neuropsychiatric disturban ...
Read More
Source: PubMed
Autism Res 2020 Jan 21
Generation of a Novel Rat Model of Angelman Syndrome with a Complete Ube3a Gene Deletion.
Dodge A, Peters MM, Greene HE, Dietrick C, Botelho R, Chung D, Willman J, Nenninger AW, Ciarlone S, Kamath SG, Houdek P, Sumová A, Anderson AE, Dindot SV, Berg EL, O'Geen H, Segal DJ, Silverman JL, Weeber EJ, Nash KR
Angelman syndrome (AS) is a rare genetic disorder characterized by severe intellectual disability, seizures, lack of speech, and ataxia. The gene resp ...
Read More
Source: PubMed
Mol Genet Genomic Med 2020 Jan 13
Atypical Rett syndrome in a girl with mosaic triple X and MECP2 variant.
Takahashi S, Takeguchi R, Kuroda M, Tanaka R
Rett syndrome (RTT) is a neurodevelopmental disorder that predominantly affects girls, resulting from a loss-of-function variant in X-linked MECP2. He ...
Read More
Source: PubMed
Adv Neurobiol
New Horizons for Molecular Genetics Diagnostic and Research in Autism Spectrum Disorder.
Al-Dewik N, Alsharshani M
Autism spectrum disorder (ASD) is a highly heritable, heterogeneous, and complex pervasive neurodevelopmental disorder (PND) characterized by distinct ...
Read More
Source: PubMed
BMC Med Genomics
A case report of a mild form of multiple acyl-CoA dehydrogenase deficiency due to compound heterozygous mutations in the ETFA gene.
Chautard R, Laroche-Raynaud C, Lia AS, Chazelas P, Derouault P, Sturtz F, Baaj Y, Veauville-Merllié A, Acquaviva C, Favreau F, Faye PA
Multiple acyl-CoA dehydrogenase deficiency (MADD), previously called glutaric aciduria type II, is a rare congenital metabolic disorder of fatty acids ...
Read More
Source: PubMed
Mol Genet Genomic Med 2020 Jan 28
Chromosome 15q BP3 to BP5 deletion is a likely locus for speech delay and language impairment: Report on a four-member family and an unrelated boy.
Pavone P, Ruggieri M, Marino SD, Corsello G, Pappalardo X, Polizzi A, Parano E, Romano C, Marino S, Praticò AD, Falsaperla R
Deletions in chromosome 15q13 have been reported both in healthy people and individuals with a wide range of behavioral and neuropsychiatric disturban ...
Read More
Source: PubMed
Autism Res 2020 Jan 21
Generation of a Novel Rat Model of Angelman Syndrome with a Complete Ube3a Gene Deletion.
Dodge A, Peters MM, Greene HE, Dietrick C, Botelho R, Chung D, Willman J, Nenninger AW, Ciarlone S, Kamath SG, Houdek P, Sumová A, Anderson AE, Dindot SV, Berg EL, O'Geen H, Segal DJ, Silverman JL, Weeber EJ, Nash KR
Angelman syndrome (AS) is a rare genetic disorder characterized by severe intellectual disability, seizures, lack of speech, and ataxia. The gene resp ...
Read More
Source: PubMed
Mol Genet Genomic Med 2020 Jan 13
Atypical Rett syndrome in a girl with mosaic triple X and MECP2 variant.
Takahashi S, Takeguchi R, Kuroda M, Tanaka R
Rett syndrome (RTT) is a neurodevelopmental disorder that predominantly affects girls, resulting from a loss-of-function variant in X-linked MECP2. He ...
Read More
Source: PubMed
