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Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2

Genetics in medicine, 2002-01, Vol.4 (1), p.20-26

2002

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A missense mutation in the dystrophin gene in a Duchenne muscular dystrophy patient

Nature genetics, 1993-08, Vol.4 (4), p.357-360

1993

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Spectrum of small mutations in the dystrophin coding region

American journal of human genetics, 1995-07, Vol.57 (1), p.22-33

1995

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Hybrids monosomal for human chromosome 5 reveal the presence of a spinal muscular atrophy (SMA) carrier with two SMN1 copies on one chromosome

Human genetics, 2001-02, Vol.108 (2), p.109-115

2001

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Identification of two point mutations and a one base deletion in exon 19 of the dystrophin gene by heteroduplex formation

Human molecular genetics, 1993-03, Vol.2 (3), p.311-313

1993

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A molecular protocol for diagnosing myotonic dystrophy

Clinical chemistry (Baltimore, Md.), 1995-01, Vol.41 (1), p.69-72

1995

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A novel splice site mutation in a Becker muscular dystrophy patient

Journal of medical genetics, 1996-04, Vol.33 (4), p.324-327

1996

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Rapid DNA haplotyping using a multiplex heteroduplex approach: Application to duchenne muscular dystrophy carrier testing

Human mutation, 1995, Vol.5 (3), p.263-268

1995

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Nonsense mutations in a Becker muscular dystrophy and an intermediate patient

Human mutation, 1996, Vol.7 (1), p.72-75

1996

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Identification of a missense mutation, single base deletion and a polymorphism in the dystrophin exon 16

Human molecular genetics, 1994-07, Vol.3 (7), p.1173-1174

1994

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Exon 44 nonsense mutation in two-duchenne muscular dystrophy brothers detected by heteroduplex analysis

Human mutation, 1993, Vol.2 (3), p.192-195

1993

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Detection of an exon 53 polymorphism in the dystrophin gene

Human genetics, 1993-10, Vol.92 (3), p.302-304

1993

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Germline mosaicism at the fragile X locus

American journal of medical genetics, 1995-01, Vol.55 (3), p.384-386

1995

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Heteroduplex analysis of the dystrophin gene: Application to point mutation and carrier detection

American journal of medical genetics, 1994-03, Vol.50 (1), p.68-73

1994

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Liver Transplantation in Patients with Sickle Cell Disease in the United States

The Journal of surgical research, 2020-11, Vol.255, p.23-32

2020

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A Porphyromonas gingivalis Capsule-Conjugate Vaccine Protects From Experimental Oral Bone Loss

Frontiers in oral health, 2021-07, Vol.2, p.686402-686402

2021

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Liver Transplantation in Patients with Sickle Cell Disease in the U.S

The Journal of surgical research, 2020-06, Vol.255, p.23-32

2020

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Patient and Provider Experience with MyChart™ Access in Endocrinology and Metabolism Clinics

Canadian journal of diabetes, 2017-10, Vol.41 (5), p.S31

2017

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86 - Patient and Provider Experience with MyChart™ Access in Endocrinology and Metabolism Clinics

Canadian journal of diabetes, 2017-10, Vol.41 (5), p.S31-S31

2017

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Southern transfer protocol for confirmation of Huntington disease

Clinical chemistry (Baltimore, Md.), 1996-10, Vol.42 (10), p.1711-1712

1996

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Calcitonin gene-related peptide : 24-hour profile and responses to volume contraction and expansion in normal men

The journal of clinical endocrinology and metabolism, 1991-05, Vol.72 (5), p.1031-1035

1991

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Strategies for amplification of trinucleotide repeats: Optimization of fragile X and androgen receptor PCR

Molecular diagnosis, 1996-06, Vol.1 (1), p.59-64

1996

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Dystrophin - Genetics
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Molecular Sequence Data
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Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2

A missense mutation in the dystrophin gene in a Duchenne muscular dystrophy patient

Spectrum of small mutations in the dystrophin coding region

Hybrids monosomal for human chromosome 5 reveal the presence of a spinal muscular atrophy (SMA) carrier with two SMN1 copies on one chromosome

Identification of two point mutations and a one base deletion in exon 19 of the dystrophin gene by heteroduplex formation

A molecular protocol for diagnosing myotonic dystrophy

A novel splice site mutation in a Becker muscular dystrophy patient

Rapid DNA haplotyping using a multiplex heteroduplex approach: Application to duchenne muscular dystrophy carrier testing

Nonsense mutations in a Becker muscular dystrophy and an intermediate patient

Identification of a missense mutation, single base deletion and a polymorphism in the dystrophin exon 16

Exon 44 nonsense mutation in two-duchenne muscular dystrophy brothers detected by heteroduplex analysis

Detection of an exon 53 polymorphism in the dystrophin gene

Germline mosaicism at the fragile X locus

Heteroduplex analysis of the dystrophin gene: Application to point mutation and carrier detection

Liver Transplantation in Patients with Sickle Cell Disease in the United States

A Porphyromonas gingivalis Capsule-Conjugate Vaccine Protects From Experimental Oral Bone Loss

Liver Transplantation in Patients with Sickle Cell Disease in the U.S

Patient and Provider Experience with MyChart™ Access in Endocrinology and Metabolism Clinics

86 - Patient and Provider Experience with MyChart™ Access in Endocrinology and Metabolism Clinics

Southern transfer protocol for confirmation of Huntington disease

Calcitonin gene-related peptide : 24-hour profile and responses to volume contraction and expansion in normal men

Strategies for amplification of trinucleotide repeats: Optimization of fragile X and androgen receptor PCR

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