Zeitschrift für genetische Syndrome und Gentherapie | 7

Bildartikel

Nager Syndrome: Report of Clinical and Radiological Findings in an Egyptian Infant

Ebtesam Abdalla

Teile diesen Artikel

Forschungsartikel

Indicator Exploration for Cancers in Women with Neurofibromatosis Type 1 - A Multi-Centre Retrospective Study

Xia Wang, Renee N. Tousignant, Albert M. Levin, Bethany Niell, Jaishri O. Blakeley, Maria T. Acosta and Bruce R. Korf

Teile diesen Artikel

Fallbericht

Quadricuspid Aortic Valve, Single Coronary Artery, Solitary Kidney and Oblique Facial Cleft. A Unique Constellation of Congenital Abnormalities: Case Report and Review of the Literature

Rabah Al-Mehisen, Ramy El Essely, Mouaz Al-Mallah, Maha A Al-Mohaissen and Tarek Kashour

Teile diesen Artikel

Forschungsartikel

Can the p.Thr1174Ser Mutation in SCN1A Gene Shape Genetic Background in Epileptic Encephalopathies?

Dorota Hoffman Zacharskaa, Iwona Terczynska, Paulina Górka-Skoczylasa, Anna Winczewska Wiktor, Tomasz Mazurczak, Jolanta Góral, Agnieszka Charzewska, Kinga Duszyc and Elzbieta Szczepanik

Teile diesen Artikel

Kurze Kommunikation

Use of Volumetric Capnography in Submaximal Exercise Test: What Did We Learn?

Paloma Lopes Francisco Parazzi, Fernando Augusto de Lima Marson, Maria Ângela Gonçalves Ribeiro, Camila Isabel Santos Schivinski and José Dirceu Ribeiro

Teile diesen Artikel

Fallbericht

4q- Deletion Syndrome: Psychiatric Symptoms in a Rare Chromosomal Disorder

Maria Emília Pereira, Ricardo Caetano Silva, Ana Velosa and Bernardo Barahona-Corrêa

Teile diesen Artikel

Fallbericht

An Adult Patient with Monosomy 18p, Growth Hormone Deficiency and Selective IgA Deficiency

Pinar Zengin Akkus, Arda Çetinkaya, Deniz Çagdas Ayvaz, Mehmet Alikasifoglu, Ayfer Alikasifoglu, Nurgün Kandemir, Ilhan Tezcan, Gülen Eda Utine and Koray Boduroglu

Teile diesen Artikel

Zeitschrift für genetische Syndrome und Gentherapie
Offener Zugang

Volumen 7, Ausgabe 2 (2016)

Nager Syndrome: Report of Clinical and Radiological Findings in an Egyptian Infant

Indicator Exploration for Cancers in Women with Neurofibromatosis Type 1 - A Multi-Centre Retrospective Study

Quadricuspid Aortic Valve, Single Coronary Artery, Solitary Kidney and Oblique Facial Cleft. A Unique Constellation of Congenital Abnormalities: Case Report and Review of the Literature

Can the p.Thr1174Ser Mutation in SCN1A Gene Shape Genetic Background in Epileptic Encephalopathies?

Use of Volumetric Capnography in Submaximal Exercise Test: What Did We Learn?

4q- Deletion Syndrome: Psychiatric Symptoms in a Rare Chromosomal Disorder

An Adult Patient with Monosomy 18p, Growth Hormone Deficiency and Selective IgA Deficiency

Zeitschrift für genetische Syndrome und GentherapieOffener Zugang

Volumen 7, Ausgabe 2 (2016)

Nager Syndrome: Report of Clinical and Radiological Findings in an Egyptian Infant

Indicator Exploration for Cancers in Women with Neurofibromatosis Type 1 - A Multi-Centre Retrospective Study

Quadricuspid Aortic Valve, Single Coronary Artery, Solitary Kidney and Oblique Facial Cleft. A Unique Constellation of Congenital Abnormalities: Case Report and Review of the Literature

Can the p.Thr1174Ser Mutation in SCN1A Gene Shape Genetic Background in Epileptic Encephalopathies?

Use of Volumetric Capnography in Submaximal Exercise Test: What Did We Learn?

4q- Deletion Syndrome: Psychiatric Symptoms in a Rare Chromosomal Disorder

An Adult Patient with Monosomy 18p, Growth Hormone Deficiency and Selective IgA Deficiency

Zeitschrift für genetische Syndrome und Gentherapie
Offener Zugang