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17q inversion involving the neurofibromatosis type one locus in a family with neurofibromatosis type one

American journal of medical genetics, 1995-08, Vol.60 (4), p.312-316

1995

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Abdominal Migraine in Children With Neurofibromatosis Type 1: A Case Series and Review of Gastrointestinal Involvement in NF1

Journal of pediatric gastroenterology and nutrition, 2001-08, Vol.33 (2), p.149-154

2001

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Abdominal Migraine in Children With Neurofibromatosis Type 1: A Case Series and Review of Gastrointestinal Involvement in NF1

Journal of pediatric gastroenterology and nutrition, 2001-08, Vol.33 (2), p.149-154

2001

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Anaesthetic management of children with tuberous sclerosis

Pediatric anesthesia, 2002-10, Vol.12 (8), p.700-704

2002

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Analysis of patient‐specific NF1 variants leads to functional insights for Ras signaling that can impact personalized medicine

Human mutation, 2022-01, Vol.43 (1), p.30-41

2022

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ARMS test for diagnosis of factor V Leiden mutation, a common cause of inherited thrombotic tendency

Journal of clinical laboratory analysis, 1996-01, Vol.10 (6), p.414-417

1996

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ARMS test for diagnosis of factor VLeiden mutation, a common cause of inherited thrombotic tendency

Journal of clinical laboratory analysis, 1996, Vol.10 (6), p.414-417

1996

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An automated method to quantify milk fat globules and sources of RNA in milk

The FASEB journal, 2012-04, Vol.26 (S1)

2012

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Back to the future: Proceedings from the 2010 NF Conference

American journal of medical genetics. Part A, 2011-02, Vol.155A (2), p.307-321

2011

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Bilateral lucency of the globus pallidus complicating methylmalonic acidemia

Annals of neurology, 1986-09, Vol.20 (3), p.364-366

1986

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Breast cancer risk and germline genomic profiling of women with neurofibromatosis type 1 who developed breast cancer

Genes chromosomes & cancer, 2018-01, Vol.57 (1), p.19-27

2018

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Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1

American journal of medical genetics, 2000-11, Vol.95 (2), p.108-117

2000

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CHARGE association in a child with de novo inverted duplication (14)(q22 → q24.3)

American journal of medical genetics, 1995-07, Vol.57 (4), p.610-614

1995

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Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

Human mutation, 2020-01, Vol.41 (1), p.299-315

2020

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Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders

American journal of medical genetics. Part A, 2011-10, Vol.155A (10), p.2386-2396

2011

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Complex familial rearrangement of chromosome 9p24.3 detected by FISH

American journal of medical genetics, 1998-04, Vol.76 (4), p.306-309

1998

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Consensus recommendations for current treatments and accelerating clinical trials for patients with neurofibromatosis type 2

American journal of medical genetics. Part A, 2012-01, Vol.158A (1), p.24-41

2012

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Consistent cytogenetic aberrations in hepatoblastoma: A common pathway of genetic alterations in embryonal liver and skeletal muscle malignancies?

Genes chromosomes & cancer, 1991-01, Vol.3 (1), p.37-43

1991

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CTF meeting 2012: Translation of the basic understanding of the biology and genetics of NF1, NF2, and schwannomatosis toward the development of effective therapies

American journal of medical genetics. Part A, 2014-03, Vol.164A (3), p.563-578

2014

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Deletion of the entire NF1 gene causing distinct manifestations in a family

American journal of medical genetics, 1997-03, Vol.69 (1), p.98-101

1997

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Deletion of the entire NF1 gene detected by FISH: Four deletion patients associated with severe manifestations

American journal of medical genetics, 1995-12, Vol.59 (4), p.528-535

1995

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Deletion of the entireNF1 gene causing distinct manifestations in a family

American journal of medical genetics, 1997-03, Vol.69 (1), p.98-101

1997

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Deletion of the SLUG (SNAI2) gene results in human piebaldism

American journal of medical genetics, 2003-10, Vol.122A (2), p.125-132

2003

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Descriptive analysis of tibial pseudarthrosis in patients with neurofibromatosis 1

American journal of medical genetics, 1999-06, Vol.84 (5), p.413-419

1999

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Diagnosis of FS should not be made until PKS is ruled out

American journal of medical genetics, 2001-08, Vol.102 (3), p.306-306

Zenker, Martin

2001

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17q inversion involving the neurofibromatosis type one locus in a family with neurofibromatosis type one

Abdominal Migraine in Children With Neurofibromatosis Type 1: A Case Series and Review of Gastrointestinal Involvement in NF1

Abdominal Migraine in Children With Neurofibromatosis Type 1: A Case Series and Review of Gastrointestinal Involvement in NF1

Anaesthetic management of children with tuberous sclerosis

Analysis of patient‐specific NF1 variants leads to functional insights for Ras signaling that can impact personalized medicine

ARMS test for diagnosis of factor V Leiden mutation, a common cause of inherited thrombotic tendency

ARMS test for diagnosis of factor VLeiden mutation, a common cause of inherited thrombotic tendency

An automated method to quantify milk fat globules and sources of RNA in milk

Back to the future: Proceedings from the 2010 NF Conference

Bilateral lucency of the globus pallidus complicating methylmalonic acidemia

Breast cancer risk and germline genomic profiling of women with neurofibromatosis type 1 who developed breast cancer

Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1

CHARGE association in a child with de novo inverted duplication (14)(q22 → q24.3)

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders

Complex familial rearrangement of chromosome 9p24.3 detected by FISH

Consensus recommendations for current treatments and accelerating clinical trials for patients with neurofibromatosis type 2

Consistent cytogenetic aberrations in hepatoblastoma: A common pathway of genetic alterations in embryonal liver and skeletal muscle malignancies?

CTF meeting 2012: Translation of the basic understanding of the biology and genetics of NF1, NF2, and schwannomatosis toward the development of effective therapies

Deletion of the entire NF1 gene causing distinct manifestations in a family

Deletion of the entire NF1 gene detected by FISH: Four deletion patients associated with severe manifestations

Deletion of the entireNF1 gene causing distinct manifestations in a family

Deletion of the SLUG (SNAI2) gene results in human piebaldism

Descriptive analysis of tibial pseudarthrosis in patients with neurofibromatosis 1

Diagnosis of FS should not be made until PKS is ruled out

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