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Human pluripotent stem cell-derived cells endogenously expressing follicle-stimulating hormone receptors: modeling the function of an inactivating receptor mutation

Molecular human reproduction, 2022-04, Vol.28 (5)

2022

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New intronic Fibroblast Growth Factor Receptor 1 (FGFR1) mutation leading to disrupted splicing and Kallmann syndrome

Human reproduction (Oxford), 2018-02, Vol.33 (2), p.328-330

2018

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Loss-of-function variants in TBC1D32 underlie syndromic hypopituitarism

Yearbook of Paediatric Endocrinology, 2020-10

2020

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Neuron-derived neurotrophic factor is mutated in congenital hypogonadotropic hypogonadism

Yearbook of Paediatric Endocrinology, 2020-10

2020

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Wireless Sensor Networks in industrial environment: Real-life evaluation results

2012 2nd Baltic Congress on Future Internet Communications, 2012, p.1-7

2012

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Congenital hypogonadotropic hypogonadism, functional hypogonadotropism or constitutional delay of growth and puberty? An analysis of a large patient series from a single tertiary center

Human reproduction (Oxford), 2017-01, Vol.32 (1), p.147-153

2017

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Neuron-Derived Neurotrophic Factor Is Mutated in Congenital Hypogonadotropic Hypogonadism

American journal of human genetics, 2020-01, Vol.106 (1), p.58-70

2020

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Familial central precocious puberty: two novel MKRN3 mutations

Pediatric research, 2021-08, Vol.90 (2), p.431-435

2021

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Complete androgen insensitivity syndrome caused by a deep intronic pseudoexon-activating mutation in the androgen receptor gene

Scientific reports, 2016-09, Vol.6 (1), p.32819-32819, Article 32819

2016

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Loss-of-Function Variants in TBC1D32 Underlie Syndromic Hypopituitarism

The journal of clinical endocrinology and metabolism, 2020-06, Vol.105 (6), p.1748-1758

2020

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GnRH receptor gene mutations in adolescents and young adults presenting with signs of partial gonadotropin deficiency

PloS one, 2017-11, Vol.12 (11), p.e0188750-e0188750

2017

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4 β -Hydroxycholesterol Signals From the Liver to Regulate Peripheral Cholesterol Transporters

Frontiers in pharmacology, 2020, Vol.11, p.361

2020

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Childhood growth in boys with congenital hypogonadotropic hypogonadism

Pediatric research, 2016-05, Vol.79 (5), p.705-709

2016

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The Role of KCNQ1 Mutations and Maternal Beta Blocker Use During Pregnancy in the Growth of Children With Long QT Syndrome

Frontiers in endocrinology (Lausanne), 2018-04, Vol.9, p.194-194

2018

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Familial central precocious puberty: two novel MKRN3 mutations

Pediatric research, 2020-11, Vol.90 (2), p.431-435

2020

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4β-Hydroxycholesterol Signals From the Liver to Regulate Peripheral Cholesterol Transporters

Frontiers in pharmacology, 2020-03, Vol.11, p.361-361

2020

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In-line moisture measurement during granulation with a four-wavelength near infrared sensor: an evaluation of particle size and binder effects

European journal of pharmaceutics and biopharmaceutics, 2000-09, Vol.50 (2), p.271-276

2000

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Multiplexed read-out electronics implemented on LTCC substrate for PbS array

Measurement science & technology, 2004-11, Vol.15 (11), p.2188-2192

2004

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LED-based NIR spectrometer module for hand-held and process analyser applications

Sensors and actuators. B, Chemical, 1998-08, Vol.51 (1), p.220-226

1998

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Next generation fluidized bed granulator automation

AAPS PharmSciTech, 2000-06, Vol.1 (2), p.E10-36

2000

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Human pluripotent stem cell-derived cells endogenously expressing follicle-stimulating hormone receptors: modeling the function of an inactivating receptor mutation

New intronic Fibroblast Growth Factor Receptor 1 (FGFR1) mutation leading to disrupted splicing and Kallmann syndrome

Loss-of-function variants in TBC1D32 underlie syndromic hypopituitarism

Neuron-derived neurotrophic factor is mutated in congenital hypogonadotropic hypogonadism

Wireless Sensor Networks in industrial environment: Real-life evaluation results

Congenital hypogonadotropic hypogonadism, functional hypogonadotropism or constitutional delay of growth and puberty? An analysis of a large patient series from a single tertiary center

Neuron-Derived Neurotrophic Factor Is Mutated in Congenital Hypogonadotropic Hypogonadism

Familial central precocious puberty: two novel MKRN3 mutations

Complete androgen insensitivity syndrome caused by a deep intronic pseudoexon-activating mutation in the androgen receptor gene

Loss-of-Function Variants in TBC1D32 Underlie Syndromic Hypopituitarism

GnRH receptor gene mutations in adolescents and young adults presenting with signs of partial gonadotropin deficiency

4 β -Hydroxycholesterol Signals From the Liver to Regulate Peripheral Cholesterol Transporters

Childhood growth in boys with congenital hypogonadotropic hypogonadism

The Role of KCNQ1 Mutations and Maternal Beta Blocker Use During Pregnancy in the Growth of Children With Long QT Syndrome

Familial central precocious puberty: two novel MKRN3 mutations

4β-Hydroxycholesterol Signals From the Liver to Regulate Peripheral Cholesterol Transporters

In-line moisture measurement during granulation with a four-wavelength near infrared sensor: an evaluation of particle size and binder effects

Multiplexed read-out electronics implemented on LTCC substrate for PbS array

Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis

LED-based NIR spectrometer module for hand-held and process analyser applications

Next generation fluidized bed granulator automation

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