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Clinical features of unilateral multicystic renal dysplasia in children.
- Published in:
- 1998
- By:
- Publication type:
- journal article
Body growth in children with polycystic kidney disease. Arbeitsgemeinschaft für Pädiatrische Nephrologie.
- Published in:
- 1995
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- Publication type:
- journal article
Prenatal prediction in families with autosomal recessive proximal spinal muscular atrophy (5q11.2-q13.3): molecular genetics and clinical experience in 109 cases.
- Published in:
- 1995
- By:
- Publication type:
- journal article
Extension of the phenotype of biallelic loss‐of‐function mutations in SLC25A46 to the severe form of pontocerebellar hypoplasia type I.
- Published in:
- Clinical Genetics, 2018, v. 93, n. 2, p. 255, doi. 10.1111/cge.13084
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- Publication type:
- Article
Diagnostic algorithms in Charcot--Marie--Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients.
- Published in:
- Clinical Genetics, 2016, v. 89, n. 1, p. 34, doi. 10.1111/cge.12594
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- Publication type:
- Article
Genotype–phenotype studies in infantile spinal muscular atrophy (SMA) type I in Germany: implications for clinical trials and genetic counselling.
- Published in:
- Clinical Genetics, 2009, v. 76, n. 2, p. 168, doi. 10.1111/j.1399-0004.2009.01200.x
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- Publication type:
- Article
New options for prenatal diagnosis in autosomal recessive polycystic kidney disease by mutation analysis of the PKHD1 gene.
- Published in:
- Clinical Genetics, 2004, v. 66, n. 1, p. 53, doi. 10.1111/j.0009-9163.2004.00259.x
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- Publication type:
- Article
Course of autosomal recessive polycystic kidney disease (ARPKD) in siblings: a clinical comparison of 20 sibships.
- Published in:
- Clinical Genetics, 1995, v. 47, n. 5, p. 248, doi. 10.1111/j.1399-0004.1995.tb04305.x
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- Publication type:
- Article
Brugada-like cardiac disease in myotonic dystrophy type 2: report of two unrelated patients.
- Published in:
- European Journal of Neurology, 2011, v. 18, n. 1, p. 191, doi. 10.1111/j.1468-1331.2010.03077.x
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- Publication type:
- Article
Autosomal recessive polycystic kidney disease in 115 children: clinical presentation, course and influence of gender.
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- Acta Paediatrica, 1996, v. 85, n. 4, p. 437, doi. 10.1111/j.1651-2227.1996.tb14056.x
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- Publication type:
- Article
Twenty-one years to the right diagnosis - clinical overlap of Simpson-Golabi-Behmel and Beckwith-Wiedemann syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. 151, doi. 10.1002/ajmg.a.36825
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- Publication type:
- Article
Enuresis and urinary incontinence in children and adolescents with spinal muscular atrophy.
- Published in:
- BJU International, 2001, v. 88, n. 4, p. 409, doi. 10.1046/j.1464-410X.2001.02341.x
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- Publication type:
- Article
Behavioural problems in children and adolescents with spinal muscular atrophy and their siblings.
- Published in:
- 2003
- By:
- Publication type:
- Journal Article
Behavioural problems in children and adolescents with spinal muscular atrophy and their siblings.
- Published in:
- Developmental Medicine & Child Neurology, 2003, v. 45, n. 1, p. 44, doi. 10.1111/j.1469-8749.2003.tb00858.x
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- Publication type:
- Article
An essential SMN interacting protein (SIP1) is not involved in the phenotypic variability of spinal muscular atrophy (SMA).
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 7, p. 493, doi. 10.1038/sj.ejhg.5200479
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- Publication type:
- Article
Infantile spinale Muskelatrophie: mehr als eine Motoneuronerkrankung?
- Published in:
- Medizinische Genetik, 2013, v. 25, n. 3, p. 347, doi. 10.1007/s11825-013-0398-4
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- Publication type:
- Article
Genetisches Modell der autosomal-rezessiv erblichen proximalen spinalen Muskelatrophie.
- Published in:
- Medizinische Genetik, 2013, v. 25, n. 3, p. 337, doi. 10.1007/s11825-013-0402-z
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- Publication type:
- Article
Schwangerschaftsverlauf und geburtshilfliche Risiken bei 178 Frauen mit hereditären neuromuskulären Erkrankungen.
- Published in:
- Medizinische Genetik, 2013, v. 25, n. 3, p. 365, doi. 10.1007/s11825-013-0410-z
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- Publication type:
- Article
Motoneuronerkrankungen - viele Facetten.
- Published in:
- 2013
- By:
- Publication type:
- Editorial
Genetisch bedingte Nierenerkrankungen.
- Published in:
- Der Internist, 1999, v. 40, n. 5, p. 534, doi. 10.1007/s001080050367
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- Publication type:
- Article
Andrological findings in infertile men with two (biallelic) CFTR mutations: results of a multicentre study in Germany and Austria comprising 71 patients.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Oligophrenin 1 (OPHN1) gene mutation causes syndromic X-linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia.
- Published in:
- 2003
- By:
- Publication type:
- Journal Article
Oligophrenin 1 (OPHN1) gene mutation causes syndromic X-linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia.
- Published in:
- Brain: A Journal of Neurology, 2003, v. 126, n. 7, p. 1537, doi. 10.1093/brain/awg173
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- Publication type:
- Article
Pathologie und Genetik hereditärer Zystennieren.
- Published in:
- Der Pathologe, 2003, v. 24, n. 6, p. 410, doi. 10.1007/s00292-003-0646-5
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- Publication type:
- Article
Pregnancy outcome in Charcot–Marie–Tooth disease: results of the CMT‐NET cohort study in Germany.
- Published in:
- European Journal of Neurology, 2020, v. 27, n. 8, p. 1390, doi. 10.1111/ene.14317
- By:
- Publication type:
- Article
On genetic heterogeneity, anticipation, and imprinting in polycystic kidney diseases.
- Published in:
- Nephrology Dialysis Transplantation, 1995, v. 10, n. 1, p. 7
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- Publication type:
- Article
Spinal muscular atrophy: a motor neuron disorder or a multi-organ disease?
- Published in:
- Journal of Anatomy, 2014, v. 224, n. 1, p. 15, doi. 10.1111/joa.12083
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- Publication type:
- Article
Psychopathology and familial stress - comparison of boys with Fragile X syndrome and Spinal Muscular Atrophy.
- Published in:
- Journal of Child Psychology, 2002, v. 43, n. 7, p. 949, doi. 10.1111/1469-7610.00098
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- Publication type:
- Article
Congenital axonal neuropathy caused by deletions in the spinal muscular atrophy region.
- Published in:
- Annals of Neurology, 1997, v. 42, n. 3, p. 364, doi. 10.1002/ana.410420314
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- Publication type:
- Article
Allelic association and deletions in autosomal recessive proximal spinal muscular atrophy: association of marker genotype with disease severity and candidate cDNAs.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 8, p. 1273
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- Publication type:
- Article
Two Adult Patients with Ellis-van Creveld Syndrome Extending the Clinical Spectrum.
- Published in:
- Molecular Syndromology, 2010, v. 1, n. 6, p. 301, doi. 10.1159/000331338
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- Publication type:
- Article
Risikoberechnungen beim autosomal-rezessiven Erbgang.
- Published in:
- Medizinische Genetik, 2011, v. 23, n. 3, p. 364, doi. 10.1007/s11825-011-0293-9
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- Publication type:
- Article
Zystennieren – eine Übersicht.
- Published in:
- Medizinische Genetik, 2010, v. 22, n. 3, p. 322, doi. 10.1007/s11825-010-0238-8
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- Publication type:
- Article
Spinale Muskelatrophien.
- Published in:
- Medizinische Genetik, 2009, v. 21, n. 3, p. 349, doi. 10.1007/s11825-009-0172-9
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- Publication type:
- Article
Neuromuskuläre Krankheiten.
- Published in:
- Medizinische Genetik, 2009, v. 21, n. 3, p. 313, doi. 10.1007/s11825-009-0175-6
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- Publication type:
- Article
Humangenetische Beratung.
- Published in:
- Medizinische Genetik, 2007, v. 19, n. 2, p. 255, doi. 10.1007/s11825-007-0011-9
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- Publication type:
- Article