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XYLT1 Mutations in Desbuquois Dysplasia Type 2

American journal of human genetics, 2014-03, Vol.94 (3), p.405-414

2014

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Mutations in KIF11 Cause Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and Chorioretinopathy

American journal of human genetics, 2012-02, Vol.90 (2), p.356-362

2012

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Mutations in different components of FGF signaling in LADD syndrome

Nature genetics, 2006-04, Vol.38 (4), p.414-417

2006

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Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5

American journal of human genetics, 2014-05, Vol.94 (5), p.734-744

2014

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Congenital disorders of N-glycosylation including diseases associated with O- as well as N-glycosylation defects

Pediatric research, 2006-12, Vol.60 (6), p.643-656

LEROY, Jules G

2006

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RMRP mutations in cartilage-hair hypoplasia

American journal of medical genetics. Part A, 2006-10, Vol.140A (19), p.2121-2130

2006

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Novel microdeletions on chromosome 14q32.2 suggest a potential role for non-coding RNAs in Kagami-Ogata syndrome

European journal of human genetics : EJHG, 2016-12, Vol.24 (12), p.1724-1729

2016

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Personal journeys to and in human genetics and dysmorphology

American journal of medical genetics. Part A, 2024-06, Vol.194 (6), p.e63514-n/a

2024

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A novel intermediate mucolipidosis II/III alpha beta caused by GNPTAB mutation in the cytosolic N-terminal domain

European journal of human genetics : EJHG, 2014-05, Vol.22 (5), p.594-601

2014

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Mesomelia-Synostoses Syndrome Results from Deletion of SULF1 and SLCO5A1 Genes at 8q13

American journal of human genetics, 2010-07, Vol.87 (1), p.95-100

2010

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New observation of sialuria prompts detection of liver tumor in previously reported patient

Molecular genetics and metabolism, 2016-06, Vol.118 (2), p.92-99

2016

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Long-term observation of a patient with dominant omodysplasia

American journal of medical genetics. Part A, 2014-05, Vol.164A (5), p.1234-1238

2014

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Two unrelated patients with autosomal dominant omodysplasia and FRIZZLED2 mutations

Clinical case reports, 2018-11, Vol.6 (11), p.2252-2255

2018

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Does the clinical phenotype of mucolipidosis-IIIγ differ from its αβ counterpart?: supporting facts in a cohort of 18 patients

Clinical dysmorphology, 2019-01, Vol.28 (1), p.7

2019

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Czech dysplasia metatarsal type: another type II collagen disorder

European journal of human genetics : EJHG, 2007-12, Vol.15 (12), p.1269-1275

2007

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Molecular order in mucolipidosis II and III nomenclature

American journal of medical genetics. Part A, 2008-02, Vol.146A (4), p.512-513

2008

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Pontocerebellar Hypoplasia: Review of Classification and Genetics, and Exclusion of Several Genes Known to Be Important for Cerebellar Development

Journal of child neurology, 2011-03, Vol.26 (3), p.288-294

2011

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Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene

American journal of medical genetics. Part A, 2007-12, Vol.143A (24), p.3144-3149

2007

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Congenital pontocerebellar atrophy and telencephalic defects in three siblings: a new subtype

Acta neuropathologica, 2007-10, Vol.114 (4), p.387-399

2007

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N-Acetylated Metabolites in Urine: Proton Nuclear Magnetic Resonance Spectroscopic Study on Patients with Inborn Errors of Metabolism

Clinical chemistry (Baltimore, Md.), 2004-01, Vol.50 (1), p.58-66

2004

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Mesomelic dysplasia with acral synostoses Verloes–David–Pfeiffer type: Follow‐up study documents progressive clinical course

American journal of medical genetics. Part A, 2009-10, Vol.149A (10), p.2220-2225

2009

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Diagnostic value of immunostaining in cultured skin fibroblasts from patients with oxidative phosphorylation defects

Pediatric research, 2006, Vol.59 (1), p.2-6

2006

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Abnormal glycosylation with hypersialylated O-glycans in patients with Sialuria

Biochimica et biophysica acta, 2006-06, Vol.1762 (6), p.598-607

2006

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Prenatal mucolipidosis type II (I‐cell disease) can present as Pacman dysplasia

American journal of medical genetics. Part A, 2005-06, Vol.135A (3), p.328-332

2005

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Dominant Inheritance of Sialuria, an Inborn Error of Feedback Inhibition

American journal of human genetics, 2001-06, Vol.68 (6), p.1419-1427

2001

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XYLT1 Mutations in Desbuquois Dysplasia Type 2

Mutations in KIF11 Cause Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and Chorioretinopathy

Mutations in different components of FGF signaling in LADD syndrome

Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5

Congenital disorders of N-glycosylation including diseases associated with O- as well as N-glycosylation defects

RMRP mutations in cartilage-hair hypoplasia

Novel microdeletions on chromosome 14q32.2 suggest a potential role for non-coding RNAs in Kagami-Ogata syndrome

Personal journeys to and in human genetics and dysmorphology

A novel intermediate mucolipidosis II/III alpha beta caused by GNPTAB mutation in the cytosolic N-terminal domain

Mesomelia-Synostoses Syndrome Results from Deletion of SULF1 and SLCO5A1 Genes at 8q13

New observation of sialuria prompts detection of liver tumor in previously reported patient

Long-term observation of a patient with dominant omodysplasia

Two unrelated patients with autosomal dominant omodysplasia and FRIZZLED2 mutations

Does the clinical phenotype of mucolipidosis-IIIγ differ from its αβ counterpart?: supporting facts in a cohort of 18 patients

Czech dysplasia metatarsal type: another type II collagen disorder

Molecular order in mucolipidosis II and III nomenclature

Pontocerebellar Hypoplasia: Review of Classification and Genetics, and Exclusion of Several Genes Known to Be Important for Cerebellar Development

Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene

Congenital pontocerebellar atrophy and telencephalic defects in three siblings: a new subtype

N-Acetylated Metabolites in Urine: Proton Nuclear Magnetic Resonance Spectroscopic Study on Patients with Inborn Errors of Metabolism

Mesomelic dysplasia with acral synostoses Verloes–David–Pfeiffer type: Follow‐up study documents progressive clinical course

Diagnostic value of immunostaining in cultured skin fibroblasts from patients with oxidative phosphorylation defects

Abnormal glycosylation with hypersialylated O-glycans in patients with Sialuria

Prenatal mucolipidosis type II (I‐cell disease) can present as Pacman dysplasia

Dominant Inheritance of Sialuria, an Inborn Error of Feedback Inhibition

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