UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 203

Sortiert nach

Gonadoblastoma Y locus genes expressed in germ cells of individuals with dysgenetic gonads and a Y chromosome in their karyotypes include DDX3Y and TSPY

Human reproduction (Oxford), 2019-04, Vol.34 (4), p.770-779

2019

Volltextzugriff (PDF)

Pseudoautosomal inheritance of Léri-Weill syndrome: what does it mean?

Clinical genetics, 2011-05, Vol.79 (5), p.489-494

2011

Volltextzugriff (PDF)

A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I

Journal of medical genetics, 2000-09, Vol.37 (9), p.669-673

2000

Volltextzugriff (PDF)

Congenital disorder of glycosylation IId (CDG-IId) -- a new entity: clinical presentation with Dandy-Walker malformation and myopathy

Neuropediatrics, 2002-02, Vol.33 (1), p.27

2002

Volltextzugriff (PDF)

Disseminated choriocarcinoma in infancy is curable by chemotherapy and delayed tumour resection

European journal of cancer (1990), 2001, Vol.37 (1), p.72-78

2001

Volltextzugriff (PDF)

Functioning thoracic paraganglioma : Association with Von Hippel-Lindau syndrome

The journal of clinical endocrinology and metabolism, 1997-10, Vol.82 (10), p.3356-3360

1997

Volltextzugriff (PDF)

Characterization of eleven novel mutations (M45L, R119H, 544delG, G145V, H154Y, C184Y, D289V, 862+5A, 1172delC, R411X, E459K) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with severe hypophosphatasia. Mutations in brief no. 217. Online

Human mutation, 1999, Vol.13 (2), p.171-172

1999

Volltextzugriff (PDF)

Multiple endokrine Neoplasie Typ 2 (MEN 2) im Kindes- und Jugendalter

Monatsschrift Kinderheilkunde, 1999-08, Vol.147 (8), p.733-743

1999

Volltextzugriff (PDF)

Therapeutische endoskopische Stent-Implantation bei chronischer Pankreatitis im Kindesalter

Monatsschrift Kinderheilkunde, 1999-03, Vol.147 (3), p.261-264

1999

Volltextzugriff (PDF)

Phaeochromocytoma associated with a de novo VHL mutation as form fruste of von Hippel-Lindau disease

European journal of pediatrics, 2001-07, Vol.160 (7), p.421-424

2001

Volltextzugriff (PDF)

Incidence of iodine contamination in neonatal transient hyperthyrotropinemia

European journal of pediatrics, 1983-09, Vol.140 (4), p.299-300

1983

Volltextzugriff (PDF)

Hypophysäres Mikroprolaktinom als Ursache einer Pubertätsverzögerung

Monatsschrift Kinderheilkunde, 1989, Vol.137 (11), p.743-746

1989

Volltextzugriff (PDF)

Transient secondary hypothyroidism and thyroxine binding globulin deficiency in leukemic children during polychemotherapy: an effect of L-asparaginase

European journal of pediatrics, 1981-07, Vol.136 (3), p.291-295

1981

Volltextzugriff (PDF)

Preparation of cytosol for steroid receptor determinations with the Beckman "Airfuge"

Clinical chemistry (Baltimore, Md.), 1979-04, Vol.25 (4), p.622

1979

Volltextzugriff (PDF)

Hypergonadotropic hypogonadism, SHBG deficiency and hyperprolactinaemia: a transient phenomenon during induction chemotherapy in leukemic children

European journal of pediatrics, 1982-05, Vol.138 (3), p.216-220

1982

Volltextzugriff (PDF)

A nonsense mutation in two German patients with fucosidosis

Human mutation, 1995, Vol.6 (2), p.184-185

1995

Volltextzugriff (PDF)

Insulin tolerance test causes hypokalaemia and can provoke cardiac arrhythmias

Hormone research, 2004-01, Vol.62 (2), p.84

2004

Volltextzugriff (PDF)

Elevated creatine phosphokinase activity in pseudohypoparathyroidism (author's transl)

Monatsschrift Kinderheilkunde, 1982-04, Vol.130 (4), p.239-240

1982

Volltextzugriff (PDF)

Hypothyroid, iodine-deficient goitre in neonates (author's transl)

Deutsche medizinische Wochenschrift, 1979-03, Vol.104 (12), p.423

1979

Volltextzugriff (PDF)

Bi-allelic inactivation of the MEN1 tumor suppressor gene in human grade II astrocytoma

Cancer letters, 2003-06, Vol.196 (1), p.23-27

2003

Volltextzugriff (PDF)

Transient reduction in TBG, FT4, T4 and T3 during asparaginase therapy in children

Pediatric research, 1981-01, Vol.15 (1), p.75-75

1981

Volltextzugriff (PDF)

Iodine-induced hypothyroidism and goiter following lipiodolTM lymphography

European journal of pediatrics, 1982-02, Vol.138 (1), p.82-83

1982

Volltextzugriff (PDF)

Fukosidose bei zwei deutschen Patienten : Klinik und Molekulargenetik

Monatsschrift Kinderheilkunde, 1998, Vol.146 (4), p.323-327

1998

Volltextzugriff (PDF)

Valproat-induzierte Pankreatitis: zwei Fallberichte und kurze Literaturübersicht

Monatsschrift für Kinderheilkunde, 1995, Vol.143 (9), p.843-846

1995

Volltextzugriff (PDF)

Deficiency of UDP-galactose:N-acetylglucosamine beta-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId

The Journal of clinical investigation, 2002-03, Vol.109 (6), p.725-733

2002

Volltextzugriff (PDF)

1 – 25 von 203

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(181)
Mit Volltextzugriff
(177)

Publikationsform

Sprache

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Gonadoblastoma Y locus genes expressed in germ cells of individuals with dysgenetic gonads and a Y chromosome in their karyotypes include DDX3Y and TSPY

Pseudoautosomal inheritance of Léri-Weill syndrome: what does it mean?

A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I

Congenital disorder of glycosylation IId (CDG-IId) -- a new entity: clinical presentation with Dandy-Walker malformation and myopathy

Disseminated choriocarcinoma in infancy is curable by chemotherapy and delayed tumour resection

Functioning thoracic paraganglioma : Association with Von Hippel-Lindau syndrome

Characterization of eleven novel mutations (M45L, R119H, 544delG, G145V, H154Y, C184Y, D289V, 862+5A, 1172delC, R411X, E459K) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with severe hypophosphatasia. Mutations in brief no. 217. Online

Multiple endokrine Neoplasie Typ 2 (MEN 2) im Kindes- und Jugendalter

Therapeutische endoskopische Stent-Implantation bei chronischer Pankreatitis im Kindesalter

Phaeochromocytoma associated with a de novo VHL mutation as form fruste of von Hippel-Lindau disease

Incidence of iodine contamination in neonatal transient hyperthyrotropinemia

Hypophysäres Mikroprolaktinom als Ursache einer Pubertätsverzögerung

Transient secondary hypothyroidism and thyroxine binding globulin deficiency in leukemic children during polychemotherapy: an effect of L-asparaginase

Preparation of cytosol for steroid receptor determinations with the Beckman "Airfuge"

Hypergonadotropic hypogonadism, SHBG deficiency and hyperprolactinaemia: a transient phenomenon during induction chemotherapy in leukemic children

A nonsense mutation in two German patients with fucosidosis

Insulin tolerance test causes hypokalaemia and can provoke cardiac arrhythmias

Elevated creatine phosphokinase activity in pseudohypoparathyroidism (author's transl)

Hypothyroid, iodine-deficient goitre in neonates (author's transl)

Bi-allelic inactivation of the MEN1 tumor suppressor gene in human grade II astrocytoma

Transient reduction in TBG, FT4, T4 and T3 during asparaginase therapy in children

Iodine-induced hypothyroidism and goiter following lipiodolTM lymphography

Fukosidose bei zwei deutschen Patienten : Klinik und Molekulargenetik

Valproat-induzierte Pankreatitis: zwei Fallberichte und kurze Literaturübersicht

Deficiency of UDP-galactose:N-acetylglucosamine beta-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId

Suchergebnisse filtern