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American Journal of Medical Genetics
|
December 18, 1998
Different patterns of obstetric complications in myotonic dystrophy in relation to the disease status of the fetus
S Rudnik-Schöneborn, G A Nicholson, G Morgan, et al.
Fetal Diagnosis and Therapy
|
March 1, 1996
Nonimmune hydrops fetalis with galactosialidosis: consequences for family planning
F Haverkamp, D Jacobs, M Cantz, et al.
European Journal of Human Genetics : EJHG
|
July 26, 2000
An essential SMN interacting protein (SIP1) is not involved in the phenotypic variability of spinal muscular atrophy (SMA)
C Helmken, A Wetter, S Rudnik-Schöneborn, et al.
Human Genetics
|
August 1, 1993
Recurrent mutations in the factor IX gene: founder effect or repeat de novo events. Investigation of the German haemophilia B population and review of de novo mutations
O Knobloch, B Zoll, K Zerres, et al.
BJU International
|
September 21, 2001
Enuresis and urinary incontinence in children and adolescents with spinal muscular atrophy
A von Gontard, C Laufersweiler-Plass, M Backes, et al.
Acta Paediatrica (Oslo, Norway : 1992)
|
November 1, 1995
Body growth in children with polycystic kidney disease. Arbeitsgemeinschaft für Pädiatrische Nephrologie
M Konrad, K Zerres, E Wühl, et al.
American Journal of Medical Genetics. Part A
|
October 24, 2014
Twenty-one years to the right diagnosis - clinical overlap of Simpson-Golabi-Behmel and Beckwith-Wiedemann syndrome
C Knopp, S Rudnik-Schöneborn, K Zerres, et al.
Journal of Medical Genetics
|
April 1, 1997
Proximal and distal spinal muscular atrophy in one family: molecular genetic studies provide further evidence for the non-allelic origin of both diseases
S Spranger, S Rudnik-Schöneborn, M Spranger, et al.
Human Molecular Genetics
|
May 1, 1997
Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA)
E Hahnen, J Schönling, S Rudnik-Schöneborn, et al.
Molecular Syndromology
|
July 26, 2013
Haploinsufficiency of ANKRD11 (16q24.3) Is Not Obligatorily Associated with Cognitive Impairment but Shows a Clinical Overlap with Silver-Russell Syndrome
S Spengler, B Oehl-Jaschkowitz, M Begemann, et al.
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of 18
Search research articles
Search
Showing results (81-90 of 174) with videos related to
Sort By:
Page
of 18
American Journal of Medical Genetics
|
December 18, 1998
Different patterns of obstetric complications in myotonic dystrophy in relation to the disease status of the fetus
S Rudnik-Schöneborn, G A Nicholson, G Morgan, et al.
Fetal Diagnosis and Therapy
|
March 1, 1996
Nonimmune hydrops fetalis with galactosialidosis: consequences for family planning
F Haverkamp, D Jacobs, M Cantz, et al.
European Journal of Human Genetics : EJHG
|
July 26, 2000
An essential SMN interacting protein (SIP1) is not involved in the phenotypic variability of spinal muscular atrophy (SMA)
C Helmken, A Wetter, S Rudnik-Schöneborn, et al.
Human Genetics
|
August 1, 1993
Recurrent mutations in the factor IX gene: founder effect or repeat de novo events. Investigation of the German haemophilia B population and review of de novo mutations
O Knobloch, B Zoll, K Zerres, et al.
BJU International
|
September 21, 2001
Enuresis and urinary incontinence in children and adolescents with spinal muscular atrophy
A von Gontard, C Laufersweiler-Plass, M Backes, et al.
Acta Paediatrica (Oslo, Norway : 1992)
|
November 1, 1995
Body growth in children with polycystic kidney disease. Arbeitsgemeinschaft für Pädiatrische Nephrologie
M Konrad, K Zerres, E Wühl, et al.
American Journal of Medical Genetics. Part A
|
October 24, 2014
Twenty-one years to the right diagnosis - clinical overlap of Simpson-Golabi-Behmel and Beckwith-Wiedemann syndrome
C Knopp, S Rudnik-Schöneborn, K Zerres, et al.
Journal of Medical Genetics
|
April 1, 1997
Proximal and distal spinal muscular atrophy in one family: molecular genetic studies provide further evidence for the non-allelic origin of both diseases
S Spranger, S Rudnik-Schöneborn, M Spranger, et al.
Human Molecular Genetics
|
May 1, 1997
Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA)
E Hahnen, J Schönling, S Rudnik-Schöneborn, et al.
Molecular Syndromology
|
July 26, 2013
Haploinsufficiency of ANKRD11 (16q24.3) Is Not Obligatorily Associated with Cognitive Impairment but Shows a Clinical Overlap with Silver-Russell Syndrome
S Spengler, B Oehl-Jaschkowitz, M Begemann, et al.
Page
of 18