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Comparing Small Intestinal Bacterial Overgrowth and Intestinal Methanogen Overgrowth: A Single-Center Retrospective Cohort Study

Gastro hep advances, 2023, Vol.2 (7), p.925-927

2023

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A Family with an Inverted Tandem Duplication 5q22.1q23.2

Cytogenetic and genome research, 2013-01, Vol.139 (1), p.65-70

2013

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Impairment of gastric acid secretion and increase of embryonic lethality in Foxq1-deficient mice

Cytogenetic and genome research, 2008-01, Vol.121 (2), p.88-95

2008

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X-linked recessive ichthyosis (XRI), cerebellar ataxia and neuropsychiatric symptoms

Fortschritte der Neurologie-Psychiatrie, 2013-01, Vol.81 (1), p.40

2013

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Is There a Yet Unreported Unbalanced Chromosomal Abnormality without Phenotypic Consequences in Proximal 4p?

Cytogenetic and genome research, 2011-01, Vol.132 (1-2), p.121-123

2011

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MECP2 gene nucleotide changes and their pathogenicity in males: proceed with caution

Journal of medical genetics, 2002-08, Vol.39 (8), p.586-588

2002

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Prenatal diagnosis of a large de novo terminal deletion of chromosome 11q

Prenatal diagnosis, 2006-03, Vol.26 (3), p.286-290

2006

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Partial trisomy of chromosome 22 resulting from an interstitial duplication of 22q11.2 in a child with typical cat eye syndrome

Journal of medical genetics, 2003-05, Vol.40 (5), p.e62-62

2003

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Autistic disorder and chromosomal mosaicism 46,XY[123]/46,XY,del(20)(pter → p12.2)[10]

American journal of medical genetics. Part A, 2003-08, Vol.120A (4), p.533-536

2003

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X-chromosomal-rezessive Ichthyose (XRI) mit zerebellärer Ataxie, Angsterkrankung und Depression

Fortschritte der Neurologie, Psychiatrie, 2013-01, Vol.81 (1), p.40-43

2013

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MODULATION OF CELL SURFACE MARKERS ON NK-LIKE T LYMPHOCYTES BY USING IL-2, IL-7 OR IL-12 IN VITRO STIMULATION

Cytokine (Philadelphia, Pa.), 2000-09, Vol.12 (9), p.1385-1390

2000

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Molecular cytogenetic characterization of a de novo supernumerary ring chromosome 7 resulting in partial trisomy, tetrasomy, and hexasomy in a child with dysmorphic signs, congenital heart defect, and developmental delay

American journal of medical genetics. Part A, 2005-08, Vol.137A (1), p.59-64

2005

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Molecular cytogenetic analysis of a de novo balanced X;autosome translocation: Evidence for predominant inactivation of the derivative X chromosome in a girl with multiple malformations

American journal of medical genetics. Part A, 2004-04, Vol.126A (3), p.229-236

2004

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A 3p interstitial deletion in two monozygotic twin brothers and an 18-year-old man: Further characterization and review

American journal of medical genetics. Part A, 2013-10, Vol.161A (10), p.2634-2640

2013

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Depigmented hypertrichosis following Blaschko’s lines associated with cerebral and ocular malformations: a new neurocutaneous, autosomal lethal gene syndrome from the group of epidermal naevus syndromes?

British journal of dermatology (1951), 2000-06, Vol.142 (6), p.1204-1207

2000

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Relevance of genetic counselling in couples prior to intracytoplasmic sperm injection

Human reproduction (Oxford), 1997-09, Vol.12 (9), p.1909-1912

1997

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First non‐mosaic case of isopseudodicentric chromosome 18 (psu idic(18)(pter → q22.1::q22.1 → pter) Is associated with multiple congenital anomalies reminiscent of trisomy 18 and 18q− syndrome

American journal of medical genetics. Part A, 2004-05, Vol.127A (1), p.58-64

2004

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Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation

European journal of human genetics : EJHG, 2004-11, Vol.12 (11), p.879-890

2004

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Fetal alcohol syndrome in association with Rett syndrome

Genetic counseling, 2004, Vol.15 (2), p.207

2004

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A novel family-specific translocation t(2;20)(p24.1;q13.1) associated with recurrent abortions: molecular characterization and segregation analysis in male meiosis

Cytogenetic and genome research, 2002-01, Vol.98 (1), p.1-8

2002

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A phenotypically normal liveborn male after prenatal diagnosis of trisomy 20 mosaicism

Genetic counseling, 2003, Vol.14 (1), p.67

2003

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The Skeletal Muscle Chloride Channel in Dominant and Recessive Human Myotonia

Science (American Association for the Advancement of Science), 1992-08, Vol.257 (5071), p.797-800

1992

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Array CGH in children and adolescents with developmental delay or intellectual disability: are there phenotypic clues to clinically relevant chromosomal microaberrations?

Neuropediatrics, 2012, Vol.43 (2)

2012

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Die Entdeckung des Gens ermöglicht die direkte molekulargenetische Diagnostik des Martin-Bell-Syndroms

Monatsschrift für Kinderheilkunde, 1992, Vol.140 (9), p.646-651

1992

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Trisomy 13 (Patau syndrome) with an 11‐year survival

Clinical genetics, 1993-01, Vol.43 (1), p.46-50

1993

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Comparing Small Intestinal Bacterial Overgrowth and Intestinal Methanogen Overgrowth: A Single-Center Retrospective Cohort Study

A Family with an Inverted Tandem Duplication 5q22.1q23.2

Impairment of gastric acid secretion and increase of embryonic lethality in Foxq1-deficient mice

X-linked recessive ichthyosis (XRI), cerebellar ataxia and neuropsychiatric symptoms

Is There a Yet Unreported Unbalanced Chromosomal Abnormality without Phenotypic Consequences in Proximal 4p?

MECP2 gene nucleotide changes and their pathogenicity in males: proceed with caution

Prenatal diagnosis of a large de novo terminal deletion of chromosome 11q

Partial trisomy of chromosome 22 resulting from an interstitial duplication of 22q11.2 in a child with typical cat eye syndrome

Autistic disorder and chromosomal mosaicism 46,XY[123]/46,XY,del(20)(pter → p12.2)[10]

X-chromosomal-rezessive Ichthyose (XRI) mit zerebellärer Ataxie, Angsterkrankung und Depression

MODULATION OF CELL SURFACE MARKERS ON NK-LIKE T LYMPHOCYTES BY USING IL-2, IL-7 OR IL-12 IN VITRO STIMULATION

Molecular cytogenetic characterization of a de novo supernumerary ring chromosome 7 resulting in partial trisomy, tetrasomy, and hexasomy in a child with dysmorphic signs, congenital heart defect, and developmental delay

Molecular cytogenetic analysis of a de novo balanced X;autosome translocation: Evidence for predominant inactivation of the derivative X chromosome in a girl with multiple malformations

A 3p interstitial deletion in two monozygotic twin brothers and an 18-year-old man: Further characterization and review

Depigmented hypertrichosis following Blaschko’s lines associated with cerebral and ocular malformations: a new neurocutaneous, autosomal lethal gene syndrome from the group of epidermal naevus syndromes?

Relevance of genetic counselling in couples prior to intracytoplasmic sperm injection

First non‐mosaic case of isopseudodicentric chromosome 18 (psu idic(18)(pter → q22.1::q22.1 → pter) Is associated with multiple congenital anomalies reminiscent of trisomy 18 and 18q− syndrome

Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation

Fetal alcohol syndrome in association with Rett syndrome

A novel family-specific translocation t(2;20)(p24.1;q13.1) associated with recurrent abortions: molecular characterization and segregation analysis in male meiosis

A phenotypically normal liveborn male after prenatal diagnosis of trisomy 20 mosaicism

The Skeletal Muscle Chloride Channel in Dominant and Recessive Human Myotonia

Array CGH in children and adolescents with developmental delay or intellectual disability: are there phenotypic clues to clinically relevant chromosomal microaberrations?

Die Entdeckung des Gens ermöglicht die direkte molekulargenetische Diagnostik des Martin-Bell-Syndroms

Trisomy 13 (Patau syndrome) with an 11‐year survival

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