Klinisches Bild und Verlauf von Kindern mit CHARGE-Association = Aspect clinique des enfants présentant une association de CHARGE = Clinical aspects of children with CHARGE associationPETERS, H; PONTZ, B. F.Monatsschrift für Kinderheilkunde. 1988, Vol 136, Num 10, pp 690-693, issn 0026-9298Article

Brachyolmia : a skeletal dysplasia with an altered mucopolysaccharide excretionSEWELL, A. C; WERN, C; PONTZ, B. F et al.Clinical genetics. 1991, Vol 40, Num 4, pp 312-317, issn 0009-9163Article

Mucopolysaccharidosis type IIIC (Sanfilippo): early clinical presentation in a large Turkish pedigreeSEWELL, A. C; PONTZ, B. F; BENISCHEK, G et al.Clinical genetics. 1988, Vol 34, Num 2, pp 116-121, issn 0009-9163Article

Hüftgelenkssonographie bei Skelettdysplasien mit metaphysärer Beteiligung: Möglichkeit der Fehlbeurteilung = Echographie de la hanche dans les dysplasies osseuses avec atteinte métaphysaire = Sonography of the hips in skeletal dysplasias with metaphyseal involvement. Possibles sources of errorSCHUMACHER, R; LEICHER-DÜBER, A; PONTZ, B. F et al.RöFo. Fortschritte auf dem Gebiete der Röntgenstrahlen und der Nuklearmedizin. 1988, Vol 149, Num 4, pp 414-416, issn 0340-1618Article

Cu-Mangel als Ursache einer Spontanfraktur bei einem Frühgeborenen = Bone fracture in a pretern infant caused by copper deficiencyPONTZ, B. F; HERWIG, J; GREINACHER, I et al.Monatsschrift für Kinderheilkunde. 1989, Vol 137, Num 6, pp 419-421, issn 0026-9298, 3 p.Article

Aluminiumintoxikation durch Phosphatbinder bei einem nicht dialysierten Kind mit chronischer NiereninsuffizienzFELDMANN, B; FÄRBER, D; PONTZ, B. F et al.Der Radiologe (Berlin. Print). 1992, Vol 32, Num 7, pp 327-332, issn 0033-832XArticle

Prenatal diagnosis of galactosialidosisSEWELL, A. C; PONTZ, B. F.Prenatal diagnosis. 1988, Vol 8, Num 2, pp 151-155, issn 0197-3851Article

Frühinfantile maligne Osteopetrose : Erfahrungen mit der medikamentösen Therapie = Infantile malignant osteopetrosis―experiences with the medical therapySPRENG, G; FÄRBER, D; PONTZ, B. F et al.Monatsschrift für Kinderheilkunde. 1993, Vol 141, Num 3, pp 214-218, issn 0026-9298Article

Biochemical, morphological and immunological findings in a patient with a cutis laxa-associated inborn disorder (De Barsy syndrome)PONTZ, B. F; ZEPP, F; STÖSS, H et al.European journal of pediatrics. 1986, Vol 145, Num 5, pp 428-434, issn 0340-6199Article

Exanthema subitum, Enzephalopathie und Hepatitis durch humanes Herpesvirus Typ 6 (HHV-6) bei einem 10 Monate alten Säungling = Exanthema subitum, encephalopathy and hepatitis by human herpesvirus-6 (HHV-6) in a 10 month old babyGLONING, H; STETTNER-CLONING, R; PONTZ, B. F et al.Monatsschrift für Kinderheilkunde. 1991, Vol 139, Num 5, pp 297-300, issn 0026-9298, 4 p.Article

Heterogeneity of osteogenesis imperfecta. Biochemical and morphological findings in a case of type III according to sillenceSTÖSS, H; PONTZ, B. F; PESCH, H.-J et al.European journal of pediatrics. 1986, Vol 145, Num 1-2, pp 34-39, issn 0340-6199Article

Clinical heterogeneity in infantile galactosialidosisSEWELL, A. C; PONTZ, B. F; WEITZEL, D et al.European journal of pediatrics. 1987, Vol 146, Num 5, pp 528-531, issn 0340-6199Article

Detection of neonatal argininosuccinate lyase deficiency by serum tandem mass spectrometrySTADLER, S; GEMPEL, K; BIEGER, I et al.Journal of inherited metabolic disease. 2001, Vol 24, Num 3, pp 370-378, issn 0141-8955Article

Type II collagenopathies : Are there additional family members ?FREISINGER, P; BONAVENTURE, J; STOESS, H et al.American journal of medical genetics. 1996, Vol 63, Num 1, pp 137-143, issn 0148-7299Article

Clinical and ultrastructural findings in three patients with geleophysic dysplasiaPONTZ, B. F; STÖSS, H; HENSCHKE, F et al.American journal of medical genetics. 1996, Vol 63, Num 1, pp 50-54, issn 0148-7299Article

Lymphadenopathy in connection with human herpes virus type 6 (HHV-6) infectionSTETTNER-GLONING, R; JÄGER, G; GLONING, H et al.(The) Clinical investigator. 1992, Vol 70, Num 1, pp 59-62Article

A combination of a common splice site mutation and a frameshift mutation in the COL7A1 gene : Absence of functional collagen VII in keratinocytes and skinHAMMAMI-HAUASLI, N; KALINKE, D. U; SCHUMANN, H et al.Journal of investigative dermatology. 1997, Vol 109, Num 3, pp 384-389, issn 0022-202XConference Paper

Symptomatic ornithine carbamoyltransferase deficiency (point mutation H202P) with normal in vitro activitySTAUDT, M; WERMUTH, B; FREISINGER, P et al.Journal of inherited metabolic disease. 1998, Vol 21, Num 1, pp 71-72, issn 0141-8955Article

Enhanced chemotaxis of tumor-derived and virus-transformed cells to fibronectin and fibroblast-conditioned medium = Augmentation du chimiotactisme des cellules d'origine tumorale et des cellules transformées par virus à la fibronectine et au milieu de culture conditionnée des fibroblastesMENSING, H; ALBINI, A; KRIEG, T et al.International journal of cancer. 1984, Vol 33, Num 1, pp 43-48, issn 0020-7136Article

Pattern of collagen synthesis and chemotactic response of fibroblasts derived from mucopolysaccharidosis patientsPONTZ, B. F; ALBANI, A; MENSING, H et al.Experimental cell research. 1984, Vol 155, Num 2, pp 457-466, issn 0014-4827Article

Osteogenesis imperfecta in Kindheit und Adoleszenz = Osteogenesis imperfecta in childhood and adolescenceBRENNER, R. E; SCHILLER, B; PONTZ, B. F et al.Monatsschrift für Kinderheilkunde. 1993, Vol 141, Num 12, pp 940-945, issn 0026-9298Article

The spectrum of free neuraminic acid storage disease in childhood : Clinical, morphological and biochemical observations in three non-finnish patientsSEWELL, A. C; POETS, C. F; DEGEN, I et al.American journal of medical genetics. 1996, Vol 63, Num 1, pp 203-208, issn 0148-7299Article

Beckenvenenthrombose bei Protein-C-Mangel nach infektiöser Mononokleose = Iliaca vein thrombosis associated with protein C deficiency after infectious mononucleosisKNEES, U; MACDONALD, E; STIEGLER, H et al.Monatsschrift für Kinderheilkunde. 1993, Vol 141, Num 12, pp 928-931, issn 0026-9298Article

Familial insulin resistant diabetes associated with acanthosis nigricans, polycystic ovaries, hypogonadism, pigmentary retinopathy, labyrinthine deafness, and mental retardationBOOR, R; HERWIG, J; SCHREZENMEIR, J et al.American journal of medical genetics. 1993, Vol 45, Num 5, pp 649-653, issn 0148-7299Article

SV40 transformed fibroblasts recognize the same 140 kD fibronectin chemotactic fragment as non-transformed cellsALBINI, A; ALLAVENA, G; RICHTER, H et al.Experientia. 1985, Vol 41, Num 12, pp 1591-1593, issn 0014-4754Article