E F Gilbert|J M Opitz - JoVE Visualize

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Birth Defects Original Article Series|January 1, 1977

The WT syndrome--a "new" autosomal dominant pleiotropic trait of radial/ulnar hypoplasia with high risk of bone marrow failure and/or leukemiaC H Gonzalez, M V Durkin-Stamm, N F Geimer, et al.

American Journal of Medical Genetics|July 1, 1989

Spinocerebellar ataxia, hypogonadotropic hypogonadism, and choroidal dystrophy (Boucher-Neuhäuser syndrome)E R Limber, G H Bresnick, R M Lebovitz, et al.

The Journal of Pediatrics|December 1, 1977

Heterogeneity of nonlethal severe short-limbed dwarfismG Romeo, J Zonana, D L Rimoin, et al.

Clinical Neuropathology|January 1, 1990

Infantile olivopontocerebellar atrophy with spinal muscular atrophy (infantile OPCA + SMA)S M Chou, E F Gilbert, R W Chun, et al.

American Journal of Medical Genetics|December 1, 1990

"C" trigonocephaly syndrome: clinical variability and possibility of surgical treatmentF Lalatta, D Clerici Bagozzi, M G Salmoiraghi, et al.

European Journal of Human Genetics : EJHG|January 17, 2003

PTPN11 mutations are not responsible for the Cardiofaciocutaneous (CFC) syndromeM I Kavamura, M G Pomponi, M Zollino, et al.

American Journal of Medical Genetics|April 1, 1984

Syndrome of multiple pterygia, camptodactyly, facial anomalies, hypoplastic lungs and heart, cystic hygroma, and skeletal anomalies: delineation of a new entity and review of lethal forms of multiple pterygium syndromeH Chen, L Immken, R Lachman, et al.

Journal of Applied Toxicology : JAT|February 1, 1988

The effects of caffeine on the ultrastructure and mitochondrial function of the embryonic chick heartH J Bruyere, J J Noonan, S Dong, et al.

Clinical Genetics|May 11, 1975

Familial Kallmann syndrome with unilateral renal aplasiaJ D Wegenke, D T Uehling, J B Wear, et al.

Human Genetics|January 1, 1981

The "cat eye syndrome": dicentric small marker chromosome probably derived from a no.22 (tetrasomy 22pter to q11) associated with a characteristic phenotype. Report of 11 patients and delineation of the clinical pictureA Schinzel, W Schmid, M Fraccaro, et al.

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Showing results (241-250 of 259) with videos related to

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Pageof 26

Birth Defects Original Article Series|January 1, 1977

The WT syndrome--a "new" autosomal dominant pleiotropic trait of radial/ulnar hypoplasia with high risk of bone marrow failure and/or leukemiaC H Gonzalez, M V Durkin-Stamm, N F Geimer, et al.

American Journal of Medical Genetics|July 1, 1989

Spinocerebellar ataxia, hypogonadotropic hypogonadism, and choroidal dystrophy (Boucher-Neuhäuser syndrome)E R Limber, G H Bresnick, R M Lebovitz, et al.

The Journal of Pediatrics|December 1, 1977

Heterogeneity of nonlethal severe short-limbed dwarfismG Romeo, J Zonana, D L Rimoin, et al.

Clinical Neuropathology|January 1, 1990

Infantile olivopontocerebellar atrophy with spinal muscular atrophy (infantile OPCA + SMA)S M Chou, E F Gilbert, R W Chun, et al.

American Journal of Medical Genetics|December 1, 1990

"C" trigonocephaly syndrome: clinical variability and possibility of surgical treatmentF Lalatta, D Clerici Bagozzi, M G Salmoiraghi, et al.

European Journal of Human Genetics : EJHG|January 17, 2003

PTPN11 mutations are not responsible for the Cardiofaciocutaneous (CFC) syndromeM I Kavamura, M G Pomponi, M Zollino, et al.

American Journal of Medical Genetics|April 1, 1984

Syndrome of multiple pterygia, camptodactyly, facial anomalies, hypoplastic lungs and heart, cystic hygroma, and skeletal anomalies: delineation of a new entity and review of lethal forms of multiple pterygium syndromeH Chen, L Immken, R Lachman, et al.

Journal of Applied Toxicology : JAT|February 1, 1988

The effects of caffeine on the ultrastructure and mitochondrial function of the embryonic chick heartH J Bruyere, J J Noonan, S Dong, et al.

Clinical Genetics|May 11, 1975

Familial Kallmann syndrome with unilateral renal aplasiaJ D Wegenke, D T Uehling, J B Wear, et al.

Human Genetics|January 1, 1981

The "cat eye syndrome": dicentric small marker chromosome probably derived from a no.22 (tetrasomy 22pter to q11) associated with a characteristic phenotype. Report of 11 patients and delineation of the clinical pictureA Schinzel, W Schmid, M Fraccaro, et al.

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