Myotonic dystrophy of the neonate-inheritance and environment

The CMT2D locus: refined genetic position and construction of a bacterial clone-based physical map.

Genome research·1999

Fine mapping of de novo CMT1A and HNPP rearrangements within CMT1A-REPs evidences two distinct sex-dependent mechanisms and candidate sequences involved in recombination.

Human molecular genetics·1998

Blepharo-cheilo-dontic (BCD) syndrome.

American journal of medical genetics·1996

Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D).

Human molecular genetics·1996

Correlation between connexin 32 gene mutations and clinical phenotype in X-linked dominant Charcot-Marie-Tooth neuropathy.

American journal of medical genetics·1996

The human connexin32 gene is transcribed from two tissue-specific promoters.

Bioscience reports·1996

[Ultrasonic prenatal diagnosis of the Jarcho-Levin syndrome].

Journal de genetique humaine·1989

[Genetic mapping of chromosome X: known localizations].

Journal de genetique humaine·1989

[Animal models of gene therapy].

Journal de genetique humaine·1989

[Frontonasal dysplasia or the median cleft face syndrome: a case report].

Journal de genetique humaine·1989

[Linkage disequilibrium and DNA markers associated with the gene for cystic fibrosis].

Journal de genetique humaine·1989

[F.G. syndrome: a rare and/or extremely polymorphic syndrome?].

Journal de genetique humaine·1989

A multidisciplinary team approach to a neonate with a rare primary mediastinal tumor: a case report.

Folia medica·2026

Non-invasive mechanical ventilation in children: a four-year retrospective review.

Folia medica·2026

Refractory Kawasaki Disease in Infants Complicated with Giant Coronary Artery Aneurysms and Takayasu Arteritis: A Rare Case Report and Literature Review.

Vascular health and risk management·2026

Preserved inflammatory homeostasis during emergency transport: a multibiomarker assessment of neonatal RDS transfers.

Turkish journal of medical sciences·2026

Recurrent Contralateral Parotitis With Initial Neonatal Onset: A Rare Case Report.

Cureus·2026

Clinical Characteristics and Surgical Outcomes of Paediatric Thyroid Disorders in a Nigerian Mission Hospital: A Nine-Year Review.

Nigerian medical journal : journal of the Nigeria Medical Association·2026

Related Experiment Videos

Myotonic dystrophy of the neonate-inheritance and environment

Related Concept Videos

The CMT2D locus: refined genetic position and construction of a bacterial clone-based physical map.

Fine mapping of de novo CMT1A and HNPP rearrangements within CMT1A-REPs evidences two distinct sex-dependent mechanisms and candidate sequences involved in recombination.

Blepharo-cheilo-dontic (BCD) syndrome.

Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D).

Correlation between connexin 32 gene mutations and clinical phenotype in X-linked dominant Charcot-Marie-Tooth neuropathy.

The human connexin32 gene is transcribed from two tissue-specific promoters.

[Ultrasonic prenatal diagnosis of the Jarcho-Levin syndrome].

[Genetic mapping of chromosome X: known localizations].

[Animal models of gene therapy].

[Frontonasal dysplasia or the median cleft face syndrome: a case report].

[Linkage disequilibrium and DNA markers associated with the gene for cystic fibrosis].

[F.G. syndrome: a rare and/or extremely polymorphic syndrome?].

A multidisciplinary team approach to a neonate with a rare primary mediastinal tumor: a case report.

Non-invasive mechanical ventilation in children: a four-year retrospective review.

Refractory Kawasaki Disease in Infants Complicated with Giant Coronary Artery Aneurysms and Takayasu Arteritis: A Rare Case Report and Literature Review.

Preserved inflammatory homeostasis during emergency transport: a multibiomarker assessment of neonatal RDS transfers.

Recurrent Contralateral Parotitis With Initial Neonatal Onset: A Rare Case Report.

Clinical Characteristics and Surgical Outcomes of Paediatric Thyroid Disorders in a Nigerian Mission Hospital: A Nine-Year Review.

Related Experiment Videos

Myotonic dystrophy of the neonate-inheritance and environment

Related Concept Videos

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