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A recognizable type of syndromic short stature with arthrogryposis caused by bi‐allelic SEMA3A loss‐of‐function variants

Clinical genetics, 2017-07, Vol.92 (1), p.86-90

2017

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LDL Receptor-Related Protein 5 (LRP5) Affects Bone Accrual and Eye Development

Cell, 2001-11, Vol.107 (4), p.513-523

2001

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Triangular tibia with fibular aplasia associated with a microdeletion on 2q11.2 encompassing LAF4

Clinical genetics, 2008-12, Vol.74 (6), p.560-565

2008

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Need for Long-term Follow-up in Enterohemorrhagic Escherichia coli—Associated Hemolytic Uremic Syndrome Due to Late-Emerging Sequelae

Clinical infectious diseases, 2012-05, Vol.54 (10), p.1413-1421

2012

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Deletion mapping on chromosome 17p in medulloblastoma

British journal of cancer, 1997, Vol.76 (10), p.1284-1287

1997

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Multilocus Linkage Identifies Two New Loci for a Mendelian Form of Stroke, Cerebral Cavernous Malformation, at 7p15–13 and 3q25.2–27

Human molecular genetics, 1998-11, Vol.7 (12), p.1851-1858

1998

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Continuous arteriovenous haemofiltration in a neonate with hyperammonaemic coma due to citrullinaemia

Journal of inherited metabolic disease, 1992-01, Vol.15 (1), p.158-159

1992

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A family with visceral course of Niemann‐Pick disease, macular halo syndrome and low sphingomyelin degradation rate

Journal of inherited metabolic disease, 1994-01, Vol.17 (1), p.93-103

1994

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Persistent hyperplastic primary vitreous in a family with osteoporosis-pseudoglioma syndrome

Clinical dysmorphology, 1997-04, Vol.6 (2), p.171-176

1997

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Familial cavernous angiomas of the brain : observations in a four generation family

European journal of pediatrics, 1992-11, Vol.151 (11), p.861-863

1992

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Hypomelanosis of Ito in a girl with plexus papilloma and translocation (X;17)

Human genetics, 1993-02, Vol.90 (6), p.611-613

1993

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Oral-facial-digital syndrome II. Transitional type between Mohr and Majewski syndrome: report of a new case with congenital stenosis of the trachea

Clinical dysmorphology, 1994-07, Vol.3 (3), p.245-250

1994

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Familial site-specific ovarian cancer is linked to BRCA1 on 17q12-21

American journal of human genetics, 1994-11, Vol.55 (5), p.870-875

1994

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Contiguous Gene Syndrome aufgrund einer 3,4 Mb-Deletion in Xp21 mit synchroner Manifestation klinischer Symptome bei monozygoten Zwillingen

Zeitschrift für Geburtshilfe und Neonatologie, 2008, Vol.212 (S 1)

2008

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Cardiac arrest in a patient with glutaric aciduria type II

Neuropediatrics, 2009, Vol.39 (5)

2009

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Characterisation of X;17(q12;p13) Translocation Breakpoints in a Female Patient with Hypomelanosis of Ito and Choroid Plexus Papilloma

European journal of human genetics : EJHG, 1997-03, Vol.5 (2), p.61-68

1997

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A family with visceral course of Niemann-Pick diseasen, macular Halo syndrome and low sphingomyelin degradation rate

Journal of inherited metabolic disease, 1994, Vol.17 (1), p.93-103

1994

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Hypomelanosis of Ito in a girl plexus papilloma and translocation (X;17)

Human genetics, 1993, Vol.90 (6), p.611-613

1993

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Localisation of the breast-ovarian cancer susceptibility gene (BRCA1) on 17q12-21 to an interval of less than or equal to IcM

Genes chromosomes & cancer, 1994-05, Vol.10 (1), p.71-76

1994

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Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia

Human mutation, 2010-08, Vol.31 (8), p.E1587-E1593

2010

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Penoscrotal hypospadias with XXYY chromosome pattern

Pädiatrie und Pädologie, 1991, Vol.26 (1), p.43-46

1991

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Localisation of the breast-ovarian cancer susceptibility gene (BRCA1) on 17q12-21 to an interval of < or = 1 cM

Genes chromosomes & cancer, 1994-05, Vol.10 (1), p.71-76

1994

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Continuous arteriovenous haemofiltration in a neonate with hyperammonoaemic coma due to citrullinaemia

Journal of inherited metabolic disease, 1992, Vol.15 (1), p.158-159

1992

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KidsAP: Eine künstliche Bauchspeicheldrüse für Kleinkinder mit Typ-1-Diabetes

Pädiatrie und Pädologie, 2020-06, Vol.55 (3), p.120-124

2020

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Fifteen years of research on oral–facial–digital syndromes: from 1 to 16 causal genes

Journal of Medical Genetics, 2017-06, Vol.54 (6), p.371-380

2017

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A recognizable type of syndromic short stature with arthrogryposis caused by bi‐allelic SEMA3A loss‐of‐function variants

LDL Receptor-Related Protein 5 (LRP5) Affects Bone Accrual and Eye Development

Triangular tibia with fibular aplasia associated with a microdeletion on 2q11.2 encompassing LAF4

Need for Long-term Follow-up in Enterohemorrhagic Escherichia coli—Associated Hemolytic Uremic Syndrome Due to Late-Emerging Sequelae

Deletion mapping on chromosome 17p in medulloblastoma

Multilocus Linkage Identifies Two New Loci for a Mendelian Form of Stroke, Cerebral Cavernous Malformation, at 7p15–13 and 3q25.2–27

Continuous arteriovenous haemofiltration in a neonate with hyperammonaemic coma due to citrullinaemia

A family with visceral course of Niemann‐Pick disease, macular halo syndrome and low sphingomyelin degradation rate

Persistent hyperplastic primary vitreous in a family with osteoporosis-pseudoglioma syndrome

Familial cavernous angiomas of the brain : observations in a four generation family

Hypomelanosis of Ito in a girl with plexus papilloma and translocation (X;17)

Oral-facial-digital syndrome II. Transitional type between Mohr and Majewski syndrome: report of a new case with congenital stenosis of the trachea

Familial site-specific ovarian cancer is linked to BRCA1 on 17q12-21

Contiguous Gene Syndrome aufgrund einer 3,4 Mb-Deletion in Xp21 mit synchroner Manifestation klinischer Symptome bei monozygoten Zwillingen

Cardiac arrest in a patient with glutaric aciduria type II

Characterisation of X;17(q12;p13) Translocation Breakpoints in a Female Patient with Hypomelanosis of Ito and Choroid Plexus Papilloma

A family with visceral course of Niemann-Pick diseasen, macular Halo syndrome and low sphingomyelin degradation rate

Hypomelanosis of Ito in a girl plexus papilloma and translocation (X;17)

Localisation of the breast-ovarian cancer susceptibility gene (BRCA1) on 17q12-21 to an interval of less than or equal to IcM

Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia

Penoscrotal hypospadias with XXYY chromosome pattern

Localisation of the breast-ovarian cancer susceptibility gene (BRCA1) on 17q12-21 to an interval of < or = 1 cM

Continuous arteriovenous haemofiltration in a neonate with hyperammonoaemic coma due to citrullinaemia

KidsAP: Eine künstliche Bauchspeicheldrüse für Kleinkinder mit Typ-1-Diabetes

Fifteen years of research on oral–facial–digital syndromes: from 1 to 16 causal genes

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