B A Schaumann|J M Opitz - JoVE Visualize

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American Journal of Medical Genetics|October 1, 1990

GAPO syndrome (McKusick 23074)--a connective tissue disorder: report on two affected sibs and on the pathologic findings in the olderA Wajntal, C P Koiffmann, B B Mendonça, et al.

American Journal of Medical Genetics|February 6, 1999

Previously apparently undescribed autosomal recessive MCA/MR syndrome with light fixation, retinal cone dystrophy, and seizures: the M syndromeA Rauch, K A Feindt, C O Leonard, et al.

Zeitschrift Fur Kinderheilkunde|September 11, 1975

Generalized gangliosidosis type II (juvenile GM1 gangliosidosis). A pathological, histochemical and ultrastructural studyE F Gilbert, J Varakis, J M Opitz, et al.

American Journal of Medical Genetics|May 1, 1983

Brachymesomelia-renal syndromeL O Langer, R Nishino, A Yamaguchi, et al.

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.

The Journal of Pediatrics|December 1, 1977

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

American Journal of Medical Genetics|May 1, 1983

The campomelic syndrome: review, report of 17 cases, and follow-up on the currently 17-year-old boy first reported by Maroteaux et al in 1971C S Houston, J M Opitz, J W Spranger, 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.

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Showing results (161-170 of 181) with videos related to

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Pageof 19

American Journal of Medical Genetics|October 1, 1990

GAPO syndrome (McKusick 23074)--a connective tissue disorder: report on two affected sibs and on the pathologic findings in the olderA Wajntal, C P Koiffmann, B B Mendonça, et al.

American Journal of Medical Genetics|February 6, 1999

Previously apparently undescribed autosomal recessive MCA/MR syndrome with light fixation, retinal cone dystrophy, and seizures: the M syndromeA Rauch, K A Feindt, C O Leonard, et al.

Zeitschrift Fur Kinderheilkunde|September 11, 1975

Generalized gangliosidosis type II (juvenile GM1 gangliosidosis). A pathological, histochemical and ultrastructural studyE F Gilbert, J Varakis, J M Opitz, et al.

American Journal of Medical Genetics|May 1, 1983

Brachymesomelia-renal syndromeL O Langer, R Nishino, A Yamaguchi, et al.

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.

The Journal of Pediatrics|December 1, 1977

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

American Journal of Medical Genetics|May 1, 1983

The campomelic syndrome: review, report of 17 cases, and follow-up on the currently 17-year-old boy first reported by Maroteaux et al in 1971C S Houston, J M Opitz, J W Spranger, 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.

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