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Urban Agroecology: Interdisciplinary Research and Future Directions

1st edition, 2020

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genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies

Proceedings of the National Academy of Sciences - PNAS, 2009-07, Vol.106 (29), p.12031-12036

2009

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A Noncoding, Regulatory Mutation Implicates HCFC1 in Nonsyndromic Intellectual Disability

American journal of human genetics, 2012-10, Vol.91 (4), p.694-702

2012

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Mutations of the Ephrin-B1 Gene Cause Craniofrontonasal Syndrome

American journal of human genetics, 2004-06, Vol.74 (6), p.1209-1215

2004

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Expanding the HPSE2 Genotypic Spectrum in Urofacial Syndrome, A Disease Featuring a Peripheral Neuropathy of the Urinary Bladder

Frontiers in genetics, 2022-06, Vol.13, p.896125-896125

2022

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Multiple Integration and Data Annotation Study (MIDAS): improving next-generation sequencing data analysis by genotype-phenotype correlations

Laboratoriumsmedizin, 2018-04, Vol.42 (1), p.1-8

2018

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Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease

Neurogenetics, 2007-11, Vol.8 (4), p.279-288

2007

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SNURF-SNRPN and UBE3A transcript levels in patients with Angelman syndrome

Human genetics, 2004-05, Vol.114 (6), p.553-561

2004

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Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases

American journal of human genetics, 2020-06, Vol.106 (6), p.872-884

2020

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Genetics of intellectual disability in consanguineous families

Molecular psychiatry, 2019-07, Vol.24 (7), p.1027-1039

2019

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Gomez-Lopez-Hernandez syndrome (cerebello-trigeminal-dermal dysplasia) : description of an additional case and review of the literature

European journal of pediatrics, 2008-01, Vol.167 (1), p.123-126

2008

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Deep sequencing reveals 50 novel genes for recessive cognitive disorders

Nature (London), 2011-10, Vol.478 (7367), p.57-63

2011

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SLC13A5 is the second gene associated with Kohlschütter-Tönz syndrome

Journal of medical genetics, 2017-01, Vol.54 (1), p.54

2017

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Haploinsufficiency of TCF4 Causes Syndromal Mental Retardation with Intermittent Hyperventilation (Pitt-Hopkins Syndrome)

American journal of human genetics, 2007-05, Vol.80 (5), p.994-1001

2007

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Escobar Syndrome Is a Prenatal Myasthenia Caused by Disruption of the Acetylcholine Receptor Fetal γ Subunit

American journal of human genetics, 2006-08, Vol.79 (2), p.303-312

2006

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14q12 Microdeletion syndrome and congenital variant of Rett syndrome

European journal of medical genetics, 2009-03, Vol.52 (2), p.148-152

2009

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Gomez-Lopez-Hernandez syndrome (cerebello-trigeminal-dermal dysplasia): description of an additional case and review of the literature

European journal of pediatrics, 2008, Vol.167 (1), p.123-126

2008

Volltextzugriff (PDF)

Additional chromosomal abnormalities in patients with a previously detected abnormal karyotype, mental retardation, and dysmorphic features

American journal of medical genetics. Part A, 2006-10, Vol.140A (20), p.2180-2187

2006

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Cryptic del/dup aberration of 60.6 Mb at 5q15-5q23.3 predicting adult-onset leukodystrophy

European journal of medical genetics, 2012-10, Vol.55 (10), p.568-572

2012

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Multiplex-FISH for Pre- and Postnatal Diagnostic Applications

American journal of human genetics, 1999-08, Vol.65 (2), p.448-462

1999

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14q12 Microdeletion syndrome and congenital variant of Rett syndrome: Emerging Microdeletion and Microduplication Syndromes

European journal of medical genetics, 2009, Vol.52 (2-3), p.148-152

2009

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Sjögren-Larsson-Syndrom

Hautarzt, 2000, Vol.51 (4), p.250-255

2000

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Sjörgen-Larsson-Syndrom

Hautarzt, 2000-04, Vol.51 (4), p.250-255

2000

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Market imperfections, opportunity and sustainable entrepreneurship

Journal of business venturing, 2007, Vol.22 (1), p.29-49

2007

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Urban Agroecology: Interdisciplinary Research and Future Directions

genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies

A Noncoding, Regulatory Mutation Implicates HCFC1 in Nonsyndromic Intellectual Disability

Mutations of the Ephrin-B1 Gene Cause Craniofrontonasal Syndrome

Expanding the HPSE2 Genotypic Spectrum in Urofacial Syndrome, A Disease Featuring a Peripheral Neuropathy of the Urinary Bladder

Multiple Integration and Data Annotation Study (MIDAS): improving next-generation sequencing data analysis by genotype-phenotype correlations

Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease

SNURF-SNRPN and UBE3A transcript levels in patients with Angelman syndrome

Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases

Genetics of intellectual disability in consanguineous families

Gomez-Lopez-Hernandez syndrome (cerebello-trigeminal-dermal dysplasia) : description of an additional case and review of the literature

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria

SLC13A5 is the second gene associated with Kohlschütter-Tönz syndrome

Haploinsufficiency of TCF4 Causes Syndromal Mental Retardation with Intermittent Hyperventilation (Pitt-Hopkins Syndrome)

Escobar Syndrome Is a Prenatal Myasthenia Caused by Disruption of the Acetylcholine Receptor Fetal γ Subunit

14q12 Microdeletion syndrome and congenital variant of Rett syndrome

Gomez-Lopez-Hernandez syndrome (cerebello-trigeminal-dermal dysplasia): description of an additional case and review of the literature

Additional chromosomal abnormalities in patients with a previously detected abnormal karyotype, mental retardation, and dysmorphic features

Cryptic del/dup aberration of 60.6 Mb at 5q15-5q23.3 predicting adult-onset leukodystrophy

Multiplex-FISH for Pre- and Postnatal Diagnostic Applications

14q12 Microdeletion syndrome and congenital variant of Rett syndrome: Emerging Microdeletion and Microduplication Syndromes

Sjögren-Larsson-Syndrom

Sjörgen-Larsson-Syndrom

Market imperfections, opportunity and sustainable entrepreneurship

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