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Deciphering the Glycosylome of Dystroglycanopathies Using Haploid Screens for Lassa Virus Entry

Science (American Association for the Advancement of Science), 2013-04, Vol.340 (6131), p.479-483

2013

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Next-generation sequencing in X-linked intellectual disability

European journal of human genetics : EJHG, 2015-02, Vol.23 (11), p.1513-1518

2015

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Acute Liver Failure Meets SOPH Syndrome: A Case Report on an Intermediate Phenotype

Pediatrics (Evanston), 2017-01, Vol.139 (1)

2017

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Bi-allelic Pathogenic Variants in HS2ST1 Cause a Syndrome Characterized by Developmental Delay and Corpus Callosum, Skeletal, and Renal Abnormalities

American journal of human genetics, 2020-12, Vol.107 (6), p.1044-1061

2020

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The German and the Liechtenstein family foundation after the German foundation law reform

Trusts & trustees, 2023-09, Vol.29 (6), p.540-552

Meinecke, Peter

2023

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Hyperphosphatasia-mental retardation syndrome due to PIGV mutations: Expanded clinical spectrum

American journal of medical genetics. Part A, 2011-08, Vol.155A (8), p.1917-1922

2011

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Wiedemann–Steiner syndrome: Three further cases

American journal of medical genetics. Part A, 2010-09, Vol.152A (9), p.2372-2375

2010

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Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I

Nature genetics, 2000-01, Vol.24 (1), p.71-74

2000

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TMCO3, a Putative K + :Proton Antiporter at the Golgi Apparatus, Is Important for Longitudinal Growth in Mice and Humans

Journal of bone and mineral research, 2023-09, Vol.38 (9), p.1334-1349

2023

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A variant of Desbuquois dysplasia characterized by advanced carpal bone age, short metacarpals, and elongated phalanges: Report of seven cases

American journal of medical genetics. Part A, 2010-04, Vol.152A (4), p.875-885

2010

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Cardiofacioneurodevelopmental syndrome: Report of a novel patient and expansion of the phenotype

American journal of medical genetics. Part A, 2022-08, Vol.188 (8), p.2448-2453

2022

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Next-generation sequencing in X-linked intellectual disability

European journal of human genetics : EJHG, 2015-11, Vol.23 (11), p.1513-1518

2015

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Aberrant phase separation and nucleolar dysfunction in rare genetic diseases

Nature (London), 2023-02, Vol.614 (7948), p.564-4

2023

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Duplications Involving a Conserved Regulatory Element Downstream of BMP2 Are Associated with Brachydactyly Type A2

American journal of human genetics, 2009-04, Vol.84 (4), p.483-492

2009

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A new progeroid syndrome reveals that genotoxic stress suppresses the somatotroph axis

Nature, 2006-12, Vol.444 (7122), p.1038-1043

2006

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Proximal 11p deletion syndrome (P11pDS): additional evaluation of the clinical and molecular aspects

European journal of human genetics : EJHG, 2004-05, Vol.12 (5), p.400-406

2004

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Single-channel properties of skeletal muscle ryanodine receptor pore Δ4923FF4924 in two brothers with a lethal form of fetal akinesia

Cell calcium (Edinburgh), 2020-05, Vol.87, p.102182-102182, Article 102182

2020

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Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations

Journal of medical genetics, 2007-02, Vol.44 (2), p.131-135

2007

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Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndrome

BMC medical genetics, 2014-11, Vol.15 (1), p.127-127, Article 127

2014

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Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle‐opathies with Microcephaly, Dwarfism and Skeletal Abnormalities

American journal of medical genetics. Part A, 2019-10, Vol.179 (10), p.2056-2066

2019

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COP9 signalosome mediates transcriptional and metabolic response to hormones, oxidative stress protection and cell wall rearrangement during fungal development

Molecular microbiology, 2010-11, Vol.78 (4), p.964-979

2010

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Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities – Support for the role of K(ATP) channels in this condition

European journal of medical genetics, 2013-12, Vol.56 (12), p.678-682

2013

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Deciphering the Glycosylome of Dystroglycanopathies Using Haploid Screens for Lassa Virus Entry

Next-generation sequencing in X-linked intellectual disability

Acute Liver Failure Meets SOPH Syndrome: A Case Report on an Intermediate Phenotype

Bi-allelic Pathogenic Variants in HS2ST1 Cause a Syndrome Characterized by Developmental Delay and Corpus Callosum, Skeletal, and Renal Abnormalities

The German and the Liechtenstein family foundation after the German foundation law reform

Hyperphosphatasia-mental retardation syndrome due to PIGV mutations: Expanded clinical spectrum

Wiedemann–Steiner syndrome: Three further cases

Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I

TMCO3, a Putative K + :Proton Antiporter at the Golgi Apparatus, Is Important for Longitudinal Growth in Mice and Humans

A variant of Desbuquois dysplasia characterized by advanced carpal bone age, short metacarpals, and elongated phalanges: Report of seven cases

Cardiofacioneurodevelopmental syndrome: Report of a novel patient and expansion of the phenotype

Next-generation sequencing in X-linked intellectual disability

Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome

Aberrant phase separation and nucleolar dysfunction in rare genetic diseases

Duplications Involving a Conserved Regulatory Element Downstream of BMP2 Are Associated with Brachydactyly Type A2

A new progeroid syndrome reveals that genotoxic stress suppresses the somatotroph axis

Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity

Mutations in STRA6 Cause a Broad Spectrum of Malformations Including Anophthalmia, Congenital Heart Defects, Diaphragmatic Hernia, Alveolar Capillary Dysplasia, Lung Hypoplasia, and Mental Retardation

Proximal 11p deletion syndrome (P11pDS): additional evaluation of the clinical and molecular aspects

Single-channel properties of skeletal muscle ryanodine receptor pore Δ4923FF4924 in two brothers with a lethal form of fetal akinesia

Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations

Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndrome

Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle‐opathies with Microcephaly, Dwarfism and Skeletal Abnormalities

COP9 signalosome mediates transcriptional and metabolic response to hormones, oxidative stress protection and cell wall rearrangement during fungal development

Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities – Support for the role of K(ATP) channels in this condition

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