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Clinical Genetics Volume 48 Issue 1

2013
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2009
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1991
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1990
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1989
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1988
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1987
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1986
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1984
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1983
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1982
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1981
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1980
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1979
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1978
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1977
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1976
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1975
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1974
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1973
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1972
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1971
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1970
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Molecular characterization of trisomic segment 3p24.1→3pter: a case with review of the literature

Conte, Robert A.; Pitter, Jean H.; Verma, Ram S.

Follow Clinical Genetics , Volume 48 (1) Wiley – Jul 1, 1995
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More Like This B2E2YEazCH Rentable

Complexity of molecular genetics of dyslipidemia in a family highly susceptible to ischemic heart disease

Jensen, H. K.; Hansen, P. S.; Jensen, L. G.; Kristensen, M. J.; Klausen, I. C.; Kjeldsen, M.; Lemming, L.; Bolund, L.; Gregersen, N.; Færgeman, O.

Follow Clinical Genetics , Volume 48 (1) Wiley – Jul 1, 1995
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A search for three known RYR1 gene mutations in 41 Swedish families with predisposition to malignant hyperthermia

Fagerlund, T. H.; Islander, G.; Twetman, E. R.; Berg, K.

Follow Clinical Genetics , Volume 48 (1) Wiley – Jul 1, 1995
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Aarskog syndrome: severe neurological deficit with spastic hemiplegia resulting from perinatal cerebrovascular accidents in two non-related males

Fryns, J. P.; Descheemaeker, M. J.

Follow Clinical Genetics , Volume 48 (1) Wiley – Jul 1, 1995
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Parental origin of the X chromosome, X chromosome mosaicism and screening for “hidden” Y chromosome in 45,X Turner syndrome ascertained cytogenetically

Larsen, Torben; Gravholt, Claus Højbjerg; Tillebeck, Annette; Larsen, Hanne; Jensen, Marianne Bryder; Nielsen, Johannes; Friedrich, Ursula

Follow Clinical Genetics , Volume 48 (1) Wiley – Jul 1, 1995
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Lung hypoplasia and severe pulmonary hypertension in an infant with double heterozygosity for spondyloepiphyseal dysplasia congenita and achondroplasia

Günthard, Joëlle; Fliegel, Christian; Ohnacker, Helmut; Rutishauser, Markus; Bühler, Erika

Follow Clinical Genetics , Volume 48 (1) Wiley – Jul 1, 1995
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Interstitial deletion of 8p: report of two patients and review of the literature

Tsukahara, Masato; Murano, Ichiro; Aoki, Yoshiharu; Kajii, Tadashi; Furukawa, Susumu

Follow Clinical Genetics , Volume 48 (1) Wiley – Jul 1, 1995
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More Like This 2XKW0Ny0s3 Rentable

Identification of a CD40L gene mutation and genetic counselling in a family with immunodeficiency with hyperimmunoglobulinemia M

Kraakman, Margriet E. M.; Weers, Michel; Español, Teresa; Schuurman, Ruud K. B.; Hendriks, Rudolf W.

Follow Clinical Genetics , Volume 48 (1) Wiley – Jul 1, 1995
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Atypical methylmalonic aciduria with progressive encephalopathy, microcephaly and cataract in two siblings — a new recessive syndrome?

Strómme, P.; Stokke, O.; Jellum, E.; Skjeldal, O.K.; Baumgartner, R.

Follow Clinical Genetics , Volume 48 (1) Wiley – Jul 1, 1995
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Clinical traits and molecular findings in 46,XX males

López, Marisol; Torres, Leda; Méndez, Juan Pablo; Cervantes, Alicia; Pérez-Palacios, Gregorio; Erickson, Robert P.; Alfaro, Guillermo; Kofman-Alfaro, Susana

Follow Clinical Genetics , Volume 48 (1) Wiley – Jul 1, 1995

Clinical Genetics Volume 48 Issue 1

Molecular characterization of trisomic segment 3p24.1→3pter: a case with review of the literature

Conte, Robert A.; Pitter, Jean H.; Verma, Ram S.

Follow Clinical Genetics , Volume 48 (1) Wiley – Jul 1, 1995

Complexity of molecular genetics of dyslipidemia in a family highly susceptible to ischemic heart disease

Jensen, H. K.; Hansen, P. S.; Jensen, L. G.; Kristensen, M. J.; Klausen, I. C.; Kjeldsen, M.; Lemming, L.; Bolund, L.; Gregersen, N.; Færgeman, O.

Follow Clinical Genetics , Volume 48 (1) Wiley – Jul 1, 1995

A search for three known RYR1 gene mutations in 41 Swedish families with predisposition to malignant hyperthermia

Fagerlund, T. H.; Islander, G.; Twetman, E. R.; Berg, K.

Follow Clinical Genetics , Volume 48 (1) Wiley – Jul 1, 1995

Aarskog syndrome: severe neurological deficit with spastic hemiplegia resulting from perinatal cerebrovascular accidents in two non-related males

Fryns, J. P.; Descheemaeker, M. J.

Follow Clinical Genetics , Volume 48 (1) Wiley – Jul 1, 1995

Parental origin of the X chromosome, X chromosome mosaicism and screening for “hidden” Y chromosome in 45,X Turner syndrome ascertained cytogenetically

Larsen, Torben; Gravholt, Claus Højbjerg; Tillebeck, Annette; Larsen, Hanne; Jensen, Marianne Bryder; Nielsen, Johannes; Friedrich, Ursula

Follow Clinical Genetics , Volume 48 (1) Wiley – Jul 1, 1995

Lung hypoplasia and severe pulmonary hypertension in an infant with double heterozygosity for spondyloepiphyseal dysplasia congenita and achondroplasia

Günthard, Joëlle; Fliegel, Christian; Ohnacker, Helmut; Rutishauser, Markus; Bühler, Erika

Follow Clinical Genetics , Volume 48 (1) Wiley – Jul 1, 1995

Interstitial deletion of 8p: report of two patients and review of the literature

Tsukahara, Masato; Murano, Ichiro; Aoki, Yoshiharu; Kajii, Tadashi; Furukawa, Susumu

Follow Clinical Genetics , Volume 48 (1) Wiley – Jul 1, 1995

Identification of a CD40L gene mutation and genetic counselling in a family with immunodeficiency with hyperimmunoglobulinemia M

Kraakman, Margriet E. M.; Weers, Michel; Español, Teresa; Schuurman, Ruud K. B.; Hendriks, Rudolf W.

Follow Clinical Genetics , Volume 48 (1) Wiley – Jul 1, 1995

Atypical methylmalonic aciduria with progressive encephalopathy, microcephaly and cataract in two siblings — a new recessive syndrome?

Strómme, P.; Stokke, O.; Jellum, E.; Skjeldal, O.K.; Baumgartner, R.

Follow Clinical Genetics , Volume 48 (1) Wiley – Jul 1, 1995

Clinical traits and molecular findings in 46,XX males

López, Marisol; Torres, Leda; Méndez, Juan Pablo; Cervantes, Alicia; Pérez-Palacios, Gregorio; Erickson, Robert P.; Alfaro, Guillermo; Kofman-Alfaro, Susana

Follow Clinical Genetics , Volume 48 (1) Wiley – Jul 1, 1995

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Clinical Genetics Volume 48 Issue 1

1 - 10 of 11 articles

Conte, Robert A.; Pitter, Jean H.; Verma, Ram S.

Follow Clinical Genetics , Volume 48 (1) Wiley – Jul 1, 1995

Jensen, H. K.; Hansen, P. S.; Jensen, L. G.; Kristensen, M. J.; Klausen, I. C.; Kjeldsen, M.; Lemming, L.; Bolund, L.; Gregersen, N.; Færgeman, O.

Follow Clinical Genetics , Volume 48 (1) Wiley – Jul 1, 1995

Fagerlund, T. H.; Islander, G.; Twetman, E. R.; Berg, K.

Follow Clinical Genetics , Volume 48 (1) Wiley – Jul 1, 1995

Fryns, J. P.; Descheemaeker, M. J.

Follow Clinical Genetics , Volume 48 (1) Wiley – Jul 1, 1995

Larsen, Torben; Gravholt, Claus Højbjerg; Tillebeck, Annette; Larsen, Hanne; Jensen, Marianne Bryder; Nielsen, Johannes; Friedrich, Ursula

Follow Clinical Genetics , Volume 48 (1) Wiley – Jul 1, 1995

Günthard, Joëlle; Fliegel, Christian; Ohnacker, Helmut; Rutishauser, Markus; Bühler, Erika

Follow Clinical Genetics , Volume 48 (1) Wiley – Jul 1, 1995

Tsukahara, Masato; Murano, Ichiro; Aoki, Yoshiharu; Kajii, Tadashi; Furukawa, Susumu

Follow Clinical Genetics , Volume 48 (1) Wiley – Jul 1, 1995

Kraakman, Margriet E. M.; Weers, Michel; Español, Teresa; Schuurman, Ruud K. B.; Hendriks, Rudolf W.

Follow Clinical Genetics , Volume 48 (1) Wiley – Jul 1, 1995

Strómme, P.; Stokke, O.; Jellum, E.; Skjeldal, O.K.; Baumgartner, R.

Follow Clinical Genetics , Volume 48 (1) Wiley – Jul 1, 1995

López, Marisol; Torres, Leda; Méndez, Juan Pablo; Cervantes, Alicia; Pérez-Palacios, Gregorio; Erickson, Robert P.; Alfaro, Guillermo; Kofman-Alfaro, Susana

Follow Clinical Genetics , Volume 48 (1) Wiley – Jul 1, 1995